Skip to main content
SpringerLink
Log in
Book cover

Handbook of Pediatric Eye and Systemic Disease pp 227–290Cite as

Connective Tissue, Skin, and Bone Disorders

  • Chapter

  • 1012 Accesses

This is a preview of subscription content, log in via an institution.

Chapter
USD   29.95
Price excludes VAT (USA)
  • Available as PDF
  • Read on any device
  • Instant download
  • Own it forever
eBook
USD   84.99
Price excludes VAT (USA)
  • Available as PDF
  • Read on any device
  • Instant download
  • Own it forever
Softcover Book
USD   109.99
Price excludes VAT (USA)
  • Compact, lightweight edition
  • Dispatched in 3 to 5 business days
  • Free shipping worldwide - see info

Tax calculation will be finalised at checkout

Purchases are for personal use only

Learn about institutional subscriptions

Preview

Unable to display preview. Download preview PDF.

Unable to display preview. Download preview PDF.

References

  1. Albrectsen B, Svendsen IB. Hypotrichosis, syndactyly, and retinal degeneration in two siblings. Acta Dermato-Venereol 1956;1:96–101.

    Google Scholar 

  2. Alfonso I, Howard C, Lopez P, Palomino JA, Gonzalez CE. Linear nevus sebaceous syndrome. A review. J Clin Neuro-ophthalmol 1987;7:170–177.

    CAS  Google Scholar 

  3. Allen RA, O’Malley C, Straatsma BR. Ocular findings in hereditary ochronosis. Arch Ophthalmol 1961;65:657–668.

    PubMed  CAS  Google Scholar 

  4. Allen RA, Straatsma BR, Apt L, Hall JF. Ocular manifestations of the Marfan syndrome. Trans Am Acad Ophthalmol Otolaryngol 1967;71:13–38.

    Google Scholar 

  5. Anneren G, Anderson T, Lindgren PG, Kjartansson S. Ectrodactylyectodermal dysplasia-clefting syndrome (EEC): the clinical variation and prenatal diagnosis. Clin Genet 1991;40:257–262.

    PubMed  CAS  Google Scholar 

  6. Bahn AK, Fujikawa LS, Foster CS. T cell subsets and Langerhans cells in normal and diseased conjunctiva. Am J Ophthalmol 1982; 94:205–212.

    Google Scholar 

  7. Balestrazzi P, Corrini L, Villani G, Bolla MP, Casa F, Bernasconi S. The Cohen syndrome: clinical and endocrinological studies of two new cases. J Med Genet 1980;17:430–432.

    PubMed  CAS  Google Scholar 

  8. Barton DE, Kwon BS, Francke U. Human tyrosinase gene, mapped to chromosome 11(q14–q21), defines second region of homology with mouse chromosome 7. Genomics 1988;3:17–24.

    PubMed  CAS  Google Scholar 

  9. Beighton H. X-linked inheritance in the Ehlers-Danlos syndrome. Br Med J 1968;2:409–411.

    Google Scholar 

  10. Beighton P. Serious complications in the Ehlers-Danlos syndrome. Br J Ophthalmol 1970;54:263–268.

    PubMed  CAS  Google Scholar 

  11. Beighton P, de Paepe A, Danks D, et al. International nosology of heritable disorders of connective tissue, Berlin 1986. Am J Med Genet 1988;29:581–594.

    PubMed  CAS  Google Scholar 

  12. Beighton P, Hamersma H, Raad M. Oculodentoosseous dysplasia: heterogeneity or variable expression? Clin Genet 1979;16:169.

    PubMed  CAS  Google Scholar 

  13. Bellows RA, Lahav M, Lepreau FJ, Albert M. Ocular manifestations of xeroderma pigmentosum in a black family. Arch Ophthalmol 1974;92:113–117.

    PubMed  CAS  Google Scholar 

  14. Bergen AAB, Sammans C, Schuurman EJM, et al. Multiplant linkage analysis in X-linked ocular albinism of the Nettleship-Falls type. Hum Genet 1991;88:162–166.

    PubMed  CAS  Google Scholar 

  15. Bergen AA, Plomp AS, Schuurman EJ, et al. Mutations in ABCC6 cause pseudoxanthoma elasticum. Nat Genet 2000;25:228–231.

    PubMed  CAS  Google Scholar 

  16. Bick D, Curry CJR, McGill JR, Schorderet DF, Bux, Moore CM. Male infant with ichthyosis, Kallmann syndrome, chondrodysplasia punctata, and an Xp chromosome deletion. Am J Med Genet 1989;33:100–107.

    PubMed  CAS  Google Scholar 

  17. Bloch B. Eigentumliche, bisher nicht beschriebene Pigment-affektion (incontinentia pigmenti). Schweiz Med Wochenchr 1926;56:404.

    Google Scholar 

  18. Boileau C, Jondeau G, Babron M-C, et al. Autosomal dominant Marfan-like conneective tissue disorder with aortic dilation and skeletal anomalies not linked to the fibrillin gene. Am J Hum Genet 1993;53:46–54.

    PubMed  CAS  Google Scholar 

  19. Bracken P, Coll P. Homocystinuria and schizophrenia. Literature review and case report. J Nerv Ment Dis 1985;173:51–55.

    PubMed  CAS  Google Scholar 

  20. Brailey WA. Double microphthalmos with defective development of iris, teeth, and anus: glaucoma at an early age. Tr Ophthalmol Soc UK 1890;10:139.

    Google Scholar 

  21. Braverman N, Steel G, Obie C, et al. Human PEX7 encodes the peroxisomal PTS2 receptor and is responsible for rhizomelic chondrodysplasia punctata. Nat Genet 1997;15:369–376.

    PubMed  CAS  Google Scholar 

  22. Braverman N, Lin P, Moebius FF, et al. Mutations in the gene encoding 3 beta-hydroxyseroid-delta(8), delta(7)-isomerase cause Xlinked dominant Conradi-Hunermann syndrome. Nat Genet 1999; 22:291–294.

    PubMed  CAS  Google Scholar 

  23. Brodrick JD, Dark AJ. Corneal dystrophy in Cockayne’s syndrome. Br J Ophthalmol 1973;57:391.

    PubMed  CAS  Google Scholar 

  24. Burgdorf WH, Dick GF, et al. Focal dermal hypoplasia in a father and daughter. J Am Acad Dermatol 1981;4:273–277.

    PubMed  CAS  Google Scholar 

  25. Burian AM, Allen L. Histologic study of patients with Marfan’s syndrome. Arch Ophthalmol 1961;65:323–333.

    PubMed  CAS  Google Scholar 

  26. Byers PH, Wallis CA, Willing MC. Osteogenesis imperfecta: translation of mutation to phenotype. J Med Genet 1991;28:433–442.

    PubMed  CAS  Google Scholar 

  27. Byers PH. Osteogenesis imperfecta. In: Riyce BM, Steinmann B (eds). Connective tissue and its heritable disorders: molecular, genetic and medical aspects. New York: Wiley-Liss, 1993:317–350.

    Google Scholar 

  28. Cadera W, Silver MM, Burt L. Juvenile xanthogranuloma. Can J Ophthalmol 1983;18:169–174.

    PubMed  CAS  Google Scholar 

  29. Cadle RG, Hall BD, Waziri M. Phenotypic Ehlers-Danlos, type VI with normal lysyl hydroxylase activity and macrocephaly (Abstract). Am J Hum Genet 1985;37:A48.

    Google Scholar 

  30. Cameron JA, Cotter JB, Risco JM, Alvarez H. Epikeratoplasty for keratoglobus associated with blue sclera. Ophthalmology 1991;98: 446–452.

    PubMed  CAS  Google Scholar 

  31. Carey JC, Hall BD. Confirmation of the Cohen syndrome. J Pediatr 1978;93:239–244.

    PubMed  CAS  Google Scholar 

  32. Carney RG Jr. Incontinentia pigmenti. A world statistical analysis. Arch Dermatol 1976;112:535–542.

    PubMed  CAS  Google Scholar 

  33. Carney RG. Incontinentia pigmenti. A report of five cases and review of the literature. Arch Dermatol Syphilol 1951;64:126–135.

    CAS  Google Scholar 

  34. Catalano RA. Incontinentia pigmenti. Am J Ophthalmol 1990;110: 696–700.

    PubMed  CAS  Google Scholar 

  35. Catalano RA, Lopatynsky M, Tasman WS. Treatment of proliferative retinopathy associated with incontinentia pigmenti. Am J Ophthalmol 1990;110:701–702.

    PubMed  CAS  Google Scholar 

  36. Chan CC, Green WR, de la Cruz ZC, et al. Ocular findings in osteogenesis imperfecta congenita. Arch Ophthalmol 1982;100: 1459–1463.

    Google Scholar 

  37. Clarkson JG, Altman RD. Angioid streaks. Surv Ophthalmol 1982; 26:235–246.

    PubMed  CAS  Google Scholar 

  38. Claxton RC. Review of 31 cases of Stevens-Johnson syndrome. Med J Aust 1963;1:963.

    Google Scholar 

  39. Coccia PF, Krivit W, Cervenka J, et al. Successful bone-marrow transplantation for infantile malignant osteopetrosis. N Engl J Med 1980;302:701.

    PubMed  CAS  Google Scholar 

  40. Cockayne EA. Dwarfism with retinal atrophy and deafness. Arch Dis Child 1936;11:1.

    Google Scholar 

  41. Cockayne EA. Dwarfism with retinal atrophy and deafness. Arch Dis Child 1946;21:52.

    Google Scholar 

  42. Cohen MM, Hall BD, Smith DW, Graham CB, Lampert KJ. A new syndrome with hypotonia, obesity, mental deficiency, and facial, oral, ocular and limb anomalies. J Pediatr 1973;83:280–284.

    PubMed  Google Scholar 

  43. Coles W. Ocular manifestations of Cockayne’s syndrome. Am J Ophthalmol 1969;67:762.

    PubMed  CAS  Google Scholar 

  44. Collins TE. Cases with symmetrical congenital notch in the outer part of each lower lid and defective development of the malar bone. Tr Ophthalm Soc UK 1900;20:190–192.

    Google Scholar 

  45. Collod G, Babron M-C, Jondeau G, et al. A second locus for Marfan syndrome maps to chromosome 3p24.2–p25. Nat Genet 1994;8: 264–268.

    PubMed  CAS  Google Scholar 

  46. Connor PJ, Juergens JL, Perry HO, et al. PXE and angioid streaks. A review of 106 cases. Am J Med 1961;30:53.

    Google Scholar 

  47. Conradi E. Vorzeitiges Auftreten von Knochenunjd eigenartigen Verkalkungskernen bei Chondrodystrophia foetalis hypoplastica. Jahrb Kinderheilkd 1914;80:86.

    Google Scholar 

  48. Cooper PH, Frierson HF, Kayne AL, et al. Association of juvenile xanthogranuloma with juvenile myeloid leukemia. Arch Dermatol 1984;120:371–375.

    PubMed  CAS  Google Scholar 

  49. Crolla JA, Gilgenkrantz S, de Grouchy J, Kajii T, Bobrow M. Incontinentia pigmenti and X-autosome translocations: non-isotopic in situ hybridization with an X-centromere-specific probe (p SV2X5) reveals a possible X-centromeric breakpoint in one of five published cases. Hum Genet 1989;81:269–272.

    PubMed  CAS  Google Scholar 

  50. Cross HE, Jensen AD. Ocular manifestations in the Marfan syndrome and homocystinuria. Am J Ophthalmol 1973;75:405–420.

    PubMed  CAS  Google Scholar 

  51. Cullison D, Abele DC, O’Quinn JL. Localized exogenous ochronosis. J Am Acad Dermatol 1983;8:882–889.

    PubMed  CAS  Google Scholar 

  52. Curry CJR, Magenis RE, Brown M, et al. Inherited chondrodysplasia punctata due to a deletion of the terminal short arm of an X chromosome. N Engl J Med 1984;311:1010–1015.

    PubMed  CAS  Google Scholar 

  53. Dabbagh O, Swaimann KF. Cockayne syndrome. MRI correlates of demyelination. Pediatr Neurol 1988;3:113–116.

    Google Scholar 

  54. De Toni T, Cafiero V. Sexual development in a girl with Cohen syndrome. J Pediatr 1982;100:1001–1002.

    PubMed  Google Scholar 

  55. DeWeerd-Kastelein EA, Keijzer W, Bootsma D. Genetic heterogeneity of xeroderma pigmentosum demonstrated by somatic cell hybridization. Nature (Lond) 1972;238:80–83

    CAS  Google Scholar 

  56. Dietz HC, Cutting GR, Pyeritz RE, et al. Marfan syndrome caused by a recurrent de novo missense mutation in the fibrillin gene. Nature (Lond) 1991;352:337–339.

    PubMed  CAS  Google Scholar 

  57. Dietz HC, Pyerritz RE, Hall BD, et al. The Marfan syndrome locus: confirmation of assignment to chromosome 15 and identification of tightly linked markers at 15q15–q21.3. Genomics 1991;9:355–361.

    PubMed  CAS  Google Scholar 

  58. Dudgeon J, Chisholm IA. Oculo-dento-digital dysplasia. Trans Ophthalmol Soc UK 1974;94:203.

    Google Scholar 

  59. Dutton JJ, Anderson RL, Schelper RL, et al. Orbital malignant melanoma and oculodermal melanocytosis: report of two cases and review of the literature. Ophthalmology 1984;91:497–507.

    PubMed  CAS  Google Scholar 

  60. Dvorak-Theobald G. Histologic eye findings in arachnodactyly. Am J Ophthalmol 1941;24:1132–1137.

    Google Scholar 

  61. De Paepe A, Viljoen D, Matton R, et al. Pseudoxanthoma elasticum: similar autosomal recessive subtye in Belgian and Afrikaner families. Am J Med Genet 1991;38:16–20.

    PubMed  Google Scholar 

  62. Drager UC. Albinism and visual pathways. N Engl J Med 1986;314:1636–1638.

    PubMed  CAS  Google Scholar 

  63. Eddy DD, Farber EM. Pseudoxanthoma elasticum. Internal manifestations: a report of cases and a statistical review of the literature. Arch Dermatol 1962;86:729–740.

    Google Scholar 

  64. El-Hefnawi H, Mortada A. Ocular manifestations of xeroderma pigmentosum. Br J Dermatol 1965;77:261–276.

    PubMed  CAS  Google Scholar 

  65. Eustis S. Rhizomelic chondrodysplasia punctata. J Pediatr Opthalmol Strabism.

    Google Scholar 

  66. Fara M, Gorlin RJ. The question of hypertelorism in oculodentoosseous dysplasia [Letter]. Am J Med Genet 1981;10:101.

    PubMed  CAS  Google Scholar 

  67. Farnsworth PN, Burke P, Dotto ME, et al. Ultrastructural abnormalities in Marfan’s syndrome lens. Arch Opthalmol 1977;95:1601–1606.

    CAS  Google Scholar 

  68. Feinberg A, Menter MA. Focal dermal hypoplasia (Goltz syndrome) in a male: a case report. S Afr Med J 1976;50:554–555.

    PubMed  CAS  Google Scholar 

  69. Fernandez-Canon JM, Granadino B, Beltran-Valero de Bernabe D, et al. The molecular basis of alkaptonuria. Nat Genet 1996;14:19–24.

    PubMed  CAS  Google Scholar 

  70. Ferre P, Fournet JP, Courpotin C. Le syndrome de Cohen, une affection autosomique recessive? Arch Fr Pediatr 1982;39:159–180.

    PubMed  CAS  Google Scholar 

  71. Feuerstein RC, Mims LC. Linear nevus sebaceus with convulsions and mental retardation. Am J Dis Child 1962;104:675–679.

    PubMed  CAS  Google Scholar 

  72. Fischer E, Keijzer W, Thelmann HW, et al. A ninth complementation group in xeroderma pigmentosum, XP I. Mutat Res 1985;145:217–225.

    PubMed  CAS  Google Scholar 

  73. Fitzpatrick TB, Zeller R, Kukita A, Kitamura H. Ocular and dermal melanocytosis. Arch Ophthalmol 1956;56:830–832.

    CAS  Google Scholar 

  74. Foster CS, Fong LP, Azar D, et al. Episodic conjunctival inflammation after Stevens-Johnson syndrome. Ophthalmology 1988;95:453–462.

    PubMed  CAS  Google Scholar 

  75. Foster CS. Erythema multiforme. In: Gold DH, Weingeist TA (eds) The eye in systemic disease. Philadelphia: Lippincott, 1990:637–638.

    Google Scholar 

  76. Franceschetti A, Klein D. The mandibulo-facial dysostosis: a new hereditary syndrome. Acta Ophthalmol 1949;27:143–224.

    Google Scholar 

  77. François J. Incontinentia pigmenti (Block-Sulzberger syndrome) and retinal changes. Br J Ophthalmol 1984;68:19–25.

    PubMed  Google Scholar 

  78. François J, Deweer JP. Albinisme oculaire lie au sexe et alterations caracteristiques du fond d’oeil chez les femmes heterozygotes. Ophthalmologica 1953;126:209–221.

    PubMed  Google Scholar 

  79. Francomano CA, Liberfarb RM, Hirose T, et al. The Stickler syndrome is closely linked to COL 2A1, the structural gene for tye II collagen. Pathol Immunopathol Res 1988;7:104–106.

    PubMed  CAS  Google Scholar 

  80. Francomano CA, Liberfarb RM, Hirose T, et al. The Stickler syndrome: evidence for close linkage to the structural gene for type II collagen. Genomics 1987;1:293–296.

    PubMed  CAS  Google Scholar 

  81. Freedman J. Xeroderma pigmentosum and band-shpaed nodular corneal dystrophy. Br J Ophthalmol 1977;61:96–100.

    PubMed  CAS  Google Scholar 

  82. Friedman E, Sack J. The Cohen syndrome: report of five new cases and a review of the literature. J Craniofacial Genet Dev Biol 1982;2:193–200.

    CAS  Google Scholar 

  83. Freire-Maia N, Pinheiro M. Ectodermal dysplasias: a clinical and genetic study. New York: Liss, 1984.

    Google Scholar 

  84. Fryer AE, Upadhyaya M, Littler M, et al. Exclusion of COL 2A1 as a candidate gene in a family with Wagner-Stickler syndrome. J Med Genet 1990;27:91–93.

    PubMed  CAS  Google Scholar 

  85. Fryns JP, Legius E, Dereymaeker AM, Van Den Bergh H. EEC syndrome without ectrodactyly: report of two new families. J Med Genet 1990;27:165–168.

    PubMed  CAS  Google Scholar 

  86. Gaasterland DE, Rodrigues MM, Moshell AN. Ocular involvement in xeroderma pigmentosum. Ophthalmology 1982;89:980–986.

    PubMed  CAS  Google Scholar 

  87. Giebel LB, Tripathi RK, Strunk KM, et al. Tyrosinase gene mutations associated with type IB (“yellow” oculocutaneous albinism. Am J Hum Genet 1991;48:1159–1167.

    PubMed  CAS  Google Scholar 

  88. Gilgenkrantz S, Mitchell G, Frezal J, et al. Linkage studies do not confirm the cytogenic location of incontinentia pigmenti on Xp11. Hum Genet 1988;80:282.

    Google Scholar 

  89. Giller H, Kaufmann WC. Ocular lesions in xeroderma pigmentosum. Am J Ophthalmol 1959;62:130–133.

    CAS  Google Scholar 

  90. Gillespie FD. A hereditary syndrome: “dysplasia oculodentodigitalis”. Arch Ophthalmol 1964;71:187.

    PubMed  CAS  Google Scholar 

  91. Glesby MJ, Pyeritz RE. Association of mitral valve prolapse and systemic abnormalities of connective tissue. A phenotypic continuum. JAMA 1989;262:523–528.

    PubMed  CAS  Google Scholar 

  92. Goldberg MF. The blinding mechanisms of incontinentia pigmenti. Ophthalmic Genet 1994;15:69–76.

    PubMed  CAS  Google Scholar 

  93. Goltz RW, Peterson WC, Gorlin RJ, Ravits HG. Focal dermal hypoplasia. Arch Dermatol 1962;86:708–717.

    PubMed  CAS  Google Scholar 

  94. Goltz RW, et al. Focal dermal hypoplasia syndrome: a review of the literature and report of two cases. Arch Dermatol 1970;101:1–11.

    PubMed  CAS  Google Scholar 

  95. Goltz RW. Focal dermal hypoplasia syndrome: an update [Editorial]. Arch Dermatol 1992;128:1108–1111.

    PubMed  CAS  Google Scholar 

  96. Goodman RM, Smith EW, Paton D, et al. Pseudoxanthoma elasticum: a clinical study and histopathological study. Medicine (Baltim) 1963;42:297–334.

    PubMed  CAS  Google Scholar 

  97. Gorlin RJ, Meskin LH, Geme JW. Oculodentodigital dysplasia. J Pediatr 1963;63:69.

    PubMed  CAS  Google Scholar 

  98. Gorlin RJ, L’Heureux PR, Shapiro I. Weill-Marchesani syndrome in two generations: genetic heterogeneity or pseudodominance? J Pediatr Ophthalmol Strabismus 1974;11:139–144.

    Google Scholar 

  99. Gorski JL, Burright EN, Harnden CE, Stein CK, Glover TW, Reyner EL. Localization of DNA sequences to a region within xp11.21 between incontinentia pigmenti (IP1) X-chromosomal translocation breakpoints. Am J Hum Genet 1991;48:53–64.

    PubMed  CAS  Google Scholar 

  100. Gott VL, Pyeritz RE, Magovern GJ Jr, et al. Surgical treatment of aneurysm of the ascending aorta in the Marfan syndrome: results of composite-graft repair in 50 patients. N Engl J Med 1986;314:1070–1074.

    PubMed  CAS  Google Scholar 

  101. Gruber MA, Graham TP Jr, Engel E. Marfan syndrome with contractural arachnodactyly and severe mitral regurgitation in a premature infant. J Pediatr 1978;93:80–82.

    PubMed  CAS  Google Scholar 

  102. Gutmann DH, Brooks ML, Emanuel BC, McDonald-McGinn DM, Zackai EH. Congenital nystagmus in a (46XX/45X) mosaic woman from a family with X-linked congenital nystagmus. Am J Hum Genet 1991;39:167–169.

    CAS  Google Scholar 

  103. Guttierez-Diaz A, Alonso MJ, Borda M. Oculodentodigital dysplasia. Ophthalmic Paediatr Genet 1982;1:227.

    Google Scholar 

  104. Hahnel R, Hahnel E, Wysocki SJ, Wilkinson SP, Hockey A. Prenatal diagnosis of X-linked ichythosis. Clin Chim Acta 1982;120:143–152.

    PubMed  CAS  Google Scholar 

  105. Happle R. X-linked dominant chondrodysplasia punctata. Review of the literature and report of a case. Hum Genet 1979;53:65–73.

    PubMed  CAS  Google Scholar 

  106. Happle R, Lenz W. Striation of bones in focal dermal hypoplasia: manifestation of mosaicism? Br J Dermatol 1977;96:133–138.

    PubMed  CAS  Google Scholar 

  107. Harris A, Lankester S, Haan E, et al. The gene for incontinentia pigmenti: failure of linkage studies using DNA probes to confirm cytogenic localization. Clin Genet 1988;34:1.

    PubMed  CAS  Google Scholar 

  108. Hausser I, Anton-Lamprecht I. Early preclinical diagnosis of dominant pseudoxanthoma elasticum by specific ultrastructural changes of dermal elastic and colagen tissue in a family at risk. Hum Genet 1991;87:693–700.

    PubMed  CAS  Google Scholar 

  109. Hermann J, France T, Spranger JW, Opitz JM, Wiffler C. The Stickler syndrome (hereditary arthro-ophthalmopathy). BDOAS 1975;XI(2):76–103.

    Google Scholar 

  110. Hermansky F, Pudlak P. Albinism associated with hemorrhagic diathesis and unusual pigment reticular cells in the bone marrow: report of two cases with histochemical studies. Blood 1959;14:162.

    PubMed  CAS  Google Scholar 

  111. Heymans HSA, Oorthuys JWE, Nelck G, Wanders RJA, Schutgens RBH. Rhizomelic chondrodysplasia punctata: another peroxisomal disorder. N Engl J Med 1985;313:187–188.

    PubMed  CAS  Google Scholar 

  112. Heymans HSA, Oorthuys JWE, Nelck G, Wanders RJA, Dingemans KP, Schutgens RBH. Peroxisomal abnormalities in rhizomelic chondrodysplasia punctata. J Inherit Metab Dis Suppl 1986;2:329–331.

    Google Scholar 

  113. Hoar DI, Waghorne C. DNA repair in Cockayne syndrome. Am J Hum Genet 1978;30:590.

    PubMed  CAS  Google Scholar 

  114. Holden JD, Akers WA. Goltz’s syndrome: focal dermal hypoplasia, A combined mesoectodermal dysplasia. Am J Dis Child 1967;114:292–300.

    PubMed  CAS  Google Scholar 

  115. Hollister DW, Godfrey M, Sakai LY, Pyeritz RE. Immunohistologic abnormalities of the microfibrilllar fiber system in the Marfan syndrome. N Engl J Med 1990;323:152–159.

    PubMed  CAS  Google Scholar 

  116. Holmes LB, Walton DS. Hereditary microcornea, glaucoma and absent frontal sinuses: a family study. J Pediatr 1969;74:968.

    PubMed  CAS  Google Scholar 

  117. Holmes RD, Wilson GN, Hajra AK. Peroxisomal enzyme deficiency in the Conradi-Hunermann form of chondrodysplasia punctata. N Engl J Med 1987;316:1608.

    PubMed  CAS  Google Scholar 

  118. Huang S, Steel H, Kumar G, et al. Ultrastructural changes of elastic fibers in pseudoxanthoma elasticum: a study of histogenesis. Arch Pathol 1967;83:108.

    PubMed  CAS  Google Scholar 

  119. Hull DS, Aaberg TM. Fluorescein study of a family with angioid streaks and pseudoxanthoma elasticum. Br J Ophthalmol 1974;58:738–745.

    PubMed  CAS  Google Scholar 

  120. Hunermann C. Chondrodystrophia calcificans congenita als abortive Form der Chondrodystrophie. Z Kinderheilkd 1931;51:1.

    Google Scholar 

  121. Hyams SW, Dar H, Neumann E. Blue sclerae and keratoglobus. Ocular signs of a connective tissue disorder. Br J Ophthalmol 1969;53:53–58.

    PubMed  CAS  Google Scholar 

  122. Iqbal A, Alter M, Lee SH. PXE: a review of neurological complications. Ann Neurol 1978;4:18–20.

    PubMed  CAS  Google Scholar 

  123. Izquierdo N, Traboulsi EI, Enger S, Maumenee IH. Glaucoma in the Marfan syndrome. Trans Am Ophthalmol Soc 1992;90:111–122.

    PubMed  CAS  Google Scholar 

  124. Izquierdo N, Traboulsi EI, Enger C, Maumenee IH. Strabismus in the Marfan syndrome. Am J Ophthalmol 1994;117:632–635.

    PubMed  CAS  Google Scholar 

  125. Jalali S, Boghani S, Vemuganti GK, Ratnakar KS, Rao GN. Penetrating keratoplasty in xeroderma pigmentosum. Case reports and review of the literature. Cornea 1994;13:527–533.

    PubMed  CAS  Google Scholar 

  126. Jay B, Blach RH, Wells RS. Ocular manifestations of ichthyosis. Br J Ophthalmol 1968;52:217–226.

    PubMed  CAS  Google Scholar 

  127. Jay B, Witkop CJ, King RA. Albinism in England. Birth Defects Orig Artic Ser 1982;18(6):319–329.

    PubMed  CAS  Google Scholar 

  128. Jensen AD, Cross HE. Ocular complications in the Weill-Marchesani syndrome. Am J Ophthalmol 1974;77:261–269.

    PubMed  CAS  Google Scholar 

  129. Jones EW, Heyl T. Naevus sebaceus. Br J Dermatol 1970;82:99–117.

    PubMed  CAS  Google Scholar 

  130. Judisch GF, Martin-Casals A, Hanson JW, Olin WH. Oculodentodigital dysplasia: four new reports and a literature review. Arch Ophthalmol 1979;97:878.

    PubMed  CAS  Google Scholar 

  131. Judisch GF, Waziri M, Krachmer FH. Ocular Ehlers-Danlos syndrome with normal lysyl hydroxylase. Arch Ophthalmol 1976;94:1489–1491.

    PubMed  CAS  Google Scholar 

  132. Kahler SG, Burns JA, Aylsworth AS. A mild autosomal recessive form of osteopetrosis. Am J Med Genet 1984;17:451.

    PubMed  CAS  Google Scholar 

  133. Kainulainen K, Pulkinen L, Savolainen A, Kaitila I, Peltonen L. Location on chromosome 15 of the gene defect causing Marfan syndrome. N Engl J Med 1990;323:935–939.

    PubMed  CAS  Google Scholar 

  134. Kaiser-Kupfer MI, McCain L, Shapiro JR, et al. Low ocular rigidity in patients with osteogenesis imperfecta. Investig Ophthalmol Vis Sci 1981;20:807–809.

    CAS  Google Scholar 

  135. Kadrnka-Lovrencic M, Jurkovic S, Reiner-Banovac Z, Najman E, Lovrencic M. Dysplasia oculodentodigitalis. Monatsschr Kinderheilkd 1973;121:595.

    PubMed  CAS  Google Scholar 

  136. Katz B, Wiley CA, Lee VW. Optic nerve hypoplasia and the syndrome of nevus sebaceous of Jadassohn. A new association. Ophthalmology 1987;94:1570–1576.

    PubMed  CAS  Google Scholar 

  137. Khalil M. Subhyaloid hemorrhage in osteogenesis imperfecta tarda. Can J Ophthalmol 1983;18:251–252.

    PubMed  CAS  Google Scholar 

  138. King RA, Olds DP. Hairbulb tyrosinase activity in oculocutaneous albinism: suggestions for pathway control and block location. Am J Med Genet 1985;20:49–55.

    PubMed  CAS  Google Scholar 

  139. Keith CG. Retinal atrophy in osteopetrosis. Arch Ophthlalmol 1968;79:234.

    CAS  Google Scholar 

  140. Key L, Carnes D, Cole S, et al. Treatment of congenital osteopetrosis with high-dose calcitriol. N Engl J Med 1984;310:409.

    PubMed  CAS  Google Scholar 

  141. King RA, Mentnik MM, Oetting WS. Non-random distribution of missense mutations within the human tyrosinase gene in type I (tyrosinase-related) oculocutaneous albinism. Mol Biol Med 1991;8:19–29.

    PubMed  CAS  Google Scholar 

  142. Kinnear PE, Jay B, Witkop CJ Jr. Albinism. Surv Ophthalmol 1985;30:75–101.

    PubMed  CAS  Google Scholar 

  143. Kloepfer HW, Rosenthal JW. Possible genetic carriers in the spherophakia-brachymorphia syndrome. Am J Hum Genet 1955;7:398–419.

    PubMed  CAS  Google Scholar 

  144. Knobloch WH, Layer JM. Clefting syndromes associated with retinal detachment. Am J Ophthalmol 1972;73:517.

    PubMed  CAS  Google Scholar 

  145. Kousseff BG. Cohen syndrome: further delineation and inheritance. Am J Med Genet 1981;9:25–30.

    PubMed  CAS  Google Scholar 

  146. Kraemer KH, Lee MM, Scotto J. Xeroderma pigmentosum: cutaneous, ocular and neurologic abnormalities in 830 published cases. Arch Dermatol 1987;123:241–250.

    PubMed  CAS  Google Scholar 

  147. Kraemer KH, et al. Prevention of skin cancer in xeroderma pigmentosum with the use of oral isotretinoin. New Engl J Med 1988;318:1633–1637.

    PubMed  CAS  Google Scholar 

  148. Kraemer KH, Slor H. Xeroderma pigmentosum. Clin Dermatol 1985;3:33–69.

    PubMed  CAS  Google Scholar 

  149. Kraus JP, et al. Cloning and screening of nanogram amounts of immunopurified mRNAs: cDNA cloning and chromosomal mapping of cystathionine beta-synthase and the beta subunit of propionyl-CoA carboxylase. Proc Natl Acad Sci USA 1986;83:2047–2051.

    PubMed  CAS  Google Scholar 

  150. Krupin T, Sly WS, Whyte MP, et al. Failure of acetazolamide to decrease intraocular pressure in patients with carbonic anhydrase II deficiency. Am J Ophthalmol 1985;99:396.

    PubMed  CAS  Google Scholar 

  151. LaDu BN. Alcaptonuria. In: Scriver CR, Beaudet AL, Sly WS, Valle D (eds) The metabolic basis of inherited disease. New York: McGraw-Hill, 1989:775–790.

    Google Scholar 

  152. Lambert HM, Sipperley JO, Shore JW, et al. Linear nevus sebaceus syndrome. Ophthalmology 1987;94:278–282.

    PubMed  CAS  Google Scholar 

  153. Lambert WC. Genetic diseases associated with DNA and chromosomal instability. Dermatol Clin 1987;5:85.

    PubMed  CAS  Google Scholar 

  154. Le Saux O, Urban Z, Tschuch C, et al. Mutations in a gene encoding an ABC transporter cause pseudoxanthoma elasticum. Nat Genet 2000;25:223–227.

    PubMed  Google Scholar 

  155. Lebwoh MG, Distefano D, Prioleau PG, et al. Pseudoxanthoma elasticum and mitral valve prolapse. N Eng J Med 1982;307:228–231.

    Google Scholar 

  156. Lebwohl M, Phelps RG, Yannuzzi L, Chang S, Schwartz I, Fuchs W. Diagnosis of pseudoxanthoma elasticum by scar biopsy in patients without characteristic skin lesions. N Engl J Med 1987;317:347–350.

    PubMed  CAS  Google Scholar 

  157. Lee S-T, Nicholls RD, Bundey S, Laxova R, Musarella M, Spritz RA. Mutations of the P gene in oculocutaneous albinism, ocular albinism, and Prader-Willi syndrome plus albinism. N Engl J Med 1994;330:529–534.

    PubMed  CAS  Google Scholar 

  158. Lehmann AR. Three complementation groups in Cockayne syndrome. Mutat Res 1982;106:347.

    PubMed  CAS  Google Scholar 

  159. Lehmann AR, et al. Prenatal diagnosis of Cockayne syndrome. Lancet 1985;1:486.

    PubMed  CAS  Google Scholar 

  160. Levin LS, Salinas CF, Jorgenson RJ. Classification of osteogenesis imperfecta by dental characteristics. Lancet 1978;1:332–333.

    PubMed  CAS  Google Scholar 

  161. Levin PS, Green WR, Victor DI, MacLean AL. Histopathology of the eye in Cockayne syndrome. Arch Ophthalmol 1983;101:1093.

    PubMed  CAS  Google Scholar 

  162. Levine RE, Snyder AA, Sugarman GI. Ocular involvement in chondrodysplasia punctata. Am J Ophthalmol 1974;77:851–859.

    PubMed  CAS  Google Scholar 

  163. Liberfarb RM, Goldblatt A. Prevalence of mitral-valve prolapse in the Stickler syndrome. Am J Med Genet 1986;24:387–392.

    PubMed  CAS  Google Scholar 

  164. Lowry RB. Early onset of Cockayne syndrome. Am J Med Genet 1982;13:209.

    PubMed  CAS  Google Scholar 

  165. Macsai MS, Lemley HL, Schwartz T. Management of oculus fragilis in Ehlers-Danlos type VI. Cornea 2000;19:104–107.

    PubMed  CAS  Google Scholar 

  166. Magid D, Pyeritz RE, Fishman EK. Musculoskeletal manifestations of the Marfan syndrome: radiologic features. Am J Radiol 1990;155:99–104.

    CAS  Google Scholar 

  167. Manzke H, Christophers E, Wiedemann H-R. Dominant sex-linked inherited chondrodysplasia punctata: a distinct type of chondrodysplasia punctata. Clin Genet 1980;17:97–107.

    PubMed  CAS  Google Scholar 

  168. Marchesani O. Brachydaktylie und angeborene Kugellinse als Systemerk-rankung. Klin Monatsbl Augenheilk 1939;103:392–406.

    Google Scholar 

  169. Marfan AB. Un cas de deformation congenitale des quatres membres, plus prononcee aux extremites, characterisee par l’allongement des os, avec un certain degre d’amincissement. Bull Mem Soc Med Hop (Paris) 1896;13:220–226.

    Google Scholar 

  170. Marsalese DL, Moodie DS, Vacante M, et al. Marfan’s syndrome: natural history and long-term follow-up of cardiovascular involvement. J Am Coll Cardiol 1989;14:422–428.

    PubMed  CAS  Google Scholar 

  171. Maslen CL, Corson GM, Maddox BK, Glanville RW, Sakai LY. Partial sequence of a candidate gene for the Marfan syndrome. Nature (Lond) 1991;352:334–337.

    PubMed  CAS  Google Scholar 

  172. Maumenee IH. The eye in the Marfan syndrome. Trans Am Ophthalmol Soc 1981;79:696–733.

    Google Scholar 

  173. Maumenee IH. Vitreoretinal degeneration: a sign of generalized connective tissue diseases. Am J Ophthalmol 1979;88:432–439.

    PubMed  CAS  Google Scholar 

  174. Maumenee IH, et al. The Wagner syndrome versus hereditary arthroophthalmopathy. Trans Am Ophthalmol Soc 1982;80:349–365.

    PubMed  CAS  Google Scholar 

  175. Maumenee IH, Traboulsi EI. The ocular findings in Kniest dysplasia. Am J Ophthalmol 1985;100:155–160.

    PubMed  CAS  Google Scholar 

  176. Mayatepek E, Kallas K, Anninos A, Muller E. Effects of ascorbic acid and low-protein diet in alkaptonuria. Eur J Pediat 1998;157:867–868.

    CAS  Google Scholar 

  177. McDermott ML, Holladay J, Liu D, Puklin JE, Shin DH, Cowden JW. Corneal topography in Ehlers-Danlos syndrome. J Cataract Refract Surg 1998;24:1212–1215.

    PubMed  CAS  Google Scholar 

  178. McGavic JS. Weill-Marchesani syndrome. Am J Ophthalmol 1966;62:820–823.

    PubMed  CAS  Google Scholar 

  179. McKusick VA. Multiple forms of the Ehlers-Danlos syndrome. Arch Surg 1974;109:475–476.

    PubMed  CAS  Google Scholar 

  180. Mendez HMM, Paskulin GO, Vallandro C. The syndrome of retinal pigmentary degeneration, microcephaly, and severe mental retardation (Mirhosseini-Holmes-Walton syndrome): report of two cases. Am J Med Genet 1985;22:223–228.

    PubMed  CAS  Google Scholar 

  181. Mevorah B, Frenk E, Muller CR, Propers HH. X-linked recessive ichthyosis in three sisters: evidence for homozygosity. Br J Dermatol 1981;105:711–717.

    PubMed  CAS  Google Scholar 

  182. Meyer JC, Groh V, Giger V, Weiss H, Varbelow H, Schnyder VW. Rapid laboratory diagnosis of X-linked ichthyosis. Dermatologica 1982;164:249–257.

    PubMed  CAS  Google Scholar 

  183. Meyer-Schwikerath G, Gruterch E, Weyers H. Mikrophthalmussyndrome. Klin Monatsbl Augenheilkd 1957;131:18.

    Google Scholar 

  184. Migeon BR, Axelman J, Jan de Beur S, Valle D, Mitchell GA, Rosenbaum KN. Selection against lethal alleles in females heterozygous for incontinentia pigmenti. Am J Hum Genet 1989;4:100.

    Google Scholar 

  185. Mir S, Wheatley HM, Maumenee Hussels IE, Whittum-Hudson J, Traboulsi EI. A comparative study of the fibrillin microfibrillar system in the lens capsule of normal and Marfan syndrome patients. Investig Ophthalmol Vis Sci 1998;39:84–93.

    CAS  Google Scholar 

  186. Mirhosseini SL, Holmes LB, Walton DS. Syndrome of pigmentary retinal degeneration, cataract, microcephaly, and severe mental retardation. J Med Genet 1972;9:193–196.

    PubMed  CAS  Google Scholar 

  187. Morgan JD. Incontinentia pigmenti (Bloch-Sulzberger syndrome) A report of four additional cases. Am J Dis Child 1971;122:294–300.

    PubMed  CAS  Google Scholar 

  188. Morse RP, Rockenmacher S, Pyeritz RE, et al. Diagnosis and management of infantile Marfan syndrome. Pediatrics 1990;86:888–894.

    PubMed  CAS  Google Scholar 

  189. Moyer DB, et al. Cockayne syndrome with early onset of manifestations. Am J Med Genet 1982;13:225–230.

    PubMed  CAS  Google Scholar 

  190. Mudd SH, et al. Disorders of transulfuration. In: Scriver C, et al (eds) The metabolic basis of inherited disease. New York: McGraw-Hill, 1989:693–734.

    Google Scholar 

  191. Mueller RF, Crowle PM, Jones RAK, Davison BCC. X-linked dominant chondrodysplasia punctata: a case report and family studies. Am J Med Genet 1985;20:137–144.

    PubMed  CAS  Google Scholar 

  192. Murdoch JL, Walker BA, Halpern BL, et al. Life expectancy and causes of death in the Marfan syndrome. N Engl J Med 1972;286:804–808.

    PubMed  CAS  Google Scholar 

  193. Neldner KH. Pseudoxanthoma elasticum. Clin Dermatol 1988;6(1):83–92.

    Google Scholar 

  194. Newsome DA, Kraemer KH, Robbins JH. Repair of DNA in xeroderma pigmentosum conjunctiva. Arch Ophthalmol 1975;93:660–662.

    PubMed  CAS  Google Scholar 

  195. Nik NA, Glew WB, Zimmerman LE. Malignant melanoma of the choroid in the nevus of Ota of a black patient. Arch Ophthalmol 1983;100:1641–1643.

    Google Scholar 

  196. Norio R, Raitta C. Are the Mirhosseini-Holmes-Walton syndrome and the Cohen syndrome identical? Am J Med Genet 1986;25:397–398.

    PubMed  CAS  Google Scholar 

  197. Norio R, Raitta C, Lindahl E. Further delineation of the Cohen syndrome; report on chorioretinal dystrophy, leukopenia and consanguinity. Clin Genet 1984;25:1–14.

    PubMed  CAS  Google Scholar 

  198. North C, Patton MA, Baraitser M, Winter RM. The clinical features of the Cohen syndrome: further case reports. J Med Genet 1985;22:131–134.

    PubMed  CAS  Google Scholar 

  199. O’Donnell FE Jr, King RA, Green WR, Wilkope J Jr. Autosomal recessively inherited ocular albinism: a new form of ocular albinism affecting females as severely as males. Arch Ophthalmol 1978;96:1621–1625.

    PubMed  Google Scholar 

  200. O’Donnell FE Jr, Hambrick GW Jr, Green WR, Iliff WJ, Stone DL: X-linked ocular albinism: an oculocutaneous macromelanosomal disorder. Arch Ophthalmol 1976;94:1883–1892.

    PubMed  Google Scholar 

  201. O’Donnell FE Jr, Green WR, Fleischman JA, Hambrick GW. Xlinked ocular albinism in blacks. Ocular albinism cum pigmento. Arch Ophthalmol 1978;96:1189–1192.

    PubMed  Google Scholar 

  202. Ohdo S, et al. Association of ectodermal dysplasia, ectrodactyly, and macular dystrophy: the EEM syndrome. J Med Genet 1983;20:52–57.

    PubMed  CAS  Google Scholar 

  203. Oorthuys JWE, Loewer-Sieger DH, Schutgens RBH, Wanders RJA, Heymans HSA, Bleeker-Wagemakers EM. Peroxisomal dysfunction in chondrodysplasia punctata, rhizomelic type. Ophthalmic Paediatr Genet 1987;8:183–185.

    PubMed  CAS  Google Scholar 

  204. Opitz JM, France TD, Hermann J, Spranger JW. The Stickler syndrome. N Engl J Med 1972;286:546–547.

    PubMed  CAS  Google Scholar 

  205. Ormerod AD, White MI, McKay E, Johnston AW. Incontinentia pigmenti in a boy with Klinefelter’s syndrome. J Med Genet 1987;24:439–441.

    PubMed  CAS  Google Scholar 

  206. Ota M. Nevus fusco-caeruleus ophthalmomaxillaris. Tokyo Med J 1939;63:1243–1245.

    Google Scholar 

  207. Otsuka F, Robbins JG. The Cockayne sydnrome. An inherited multisystem disorder with cutaneous photosensitivity and defective repair of DNA. Am J Dermatopathol 1985;7:387.

    PubMed  CAS  Google Scholar 

  208. Patton MA, et al. Early onset Cockayne’s syndrome: case reports with neuropathological and fibroblast studies. J Med Genet 1989;26:154–159.

    PubMed  CAS  Google Scholar 

  209. Pearce WG. Ocular and genetic features of Cockayne’s syndrome. Can J Ophthalmol 1972;7:435.

    PubMed  CAS  Google Scholar 

  210. Pearce WG, Sauger R, Race RR. Ocular albinism and Xg. Lancet 1968;1:1282–1283.

    PubMed  CAS  Google Scholar 

  211. Pedersen U. Bramsen T. PatCentral corneal thickness in osteogenesis imperfecta and otosclerosis. J Otorhinolaryngol Relat Spec 1984;46:38–41.

    CAS  Google Scholar 

  212. Percival SPB. Angioid streaks and elastorrhexis. Br J Ophthalmol 1968;52:297–309.

    PubMed  CAS  Google Scholar 

  213. Pope FM. Two types of autosomal recessive pseudoxanthoma elasticum. Arch Dermatol 1974;110:209–212.

    PubMed  CAS  Google Scholar 

  214. Pope FM. Autosomal dominant pseudoxanthoma elasticum. J Med Genet 1974;11:152–157.

    PubMed  CAS  Google Scholar 

  215. Pope FM. Historical evidence for the genetic heterogeneity of pseudoxanthoma elasticum. Br J Dermatol 1975;92:493–509.

    PubMed  CAS  Google Scholar 

  216. Preus M, et al. Waardenburg syndrome: penetrance of major signs. Am J Med Genet 1983;15:383–388.

    PubMed  CAS  Google Scholar 

  217. Pries C, Mittleman D, Miller M, et al. The EEC syndrome. Am J Dis Child 1974;127:840.

    PubMed  CAS  Google Scholar 

  218. Pyeritz RE. Marfan syndrome: guidelines for recognizing an elusive disorder. J Musculoskel Med 1990;Dec:21–35.

    Google Scholar 

  219. Pyeritz RE, Fishman EK, Bernhardt BA, et al. Dural ectasia is a common feature of the Marfan syndrome. Am J Hum Genet 1988;43:726–732.

    PubMed  CAS  Google Scholar 

  220. Pyeritz RE, McKusick VA. The Marfan syndrome: diagnosis and management. N Engl J Med 1979;300:772–777.

    PubMed  CAS  Google Scholar 

  221. Rahi J, Hungerford J. Early diagnosis of the retinopathy of incontinentia pigmenti: successful treatment by cryotherapy. Br J Ophthalmol 1990;74:377–379.

    PubMed  CAS  Google Scholar 

  222. Rainbow AJ, Howes MA. A deficiency in the repair of UV and gamma-ray damaged DNA in fibroblasts from Cockayne’s syndrome. Mutat Res 1982;93:235.

    PubMed  CAS  Google Scholar 

  223. Ramsey MS, Fine BS, Shields JA, et al. The Marfan syndrome. Am J Ophthalmol 1973;76:102–116.

    PubMed  CAS  Google Scholar 

  224. Ramsey MS, Dickson DH. Lens fringe in homocystinuria. Br J Ophthalmol 1975;59:338–342.

    PubMed  CAS  Google Scholar 

  225. Ramsey MS, Yanoff M, Fine BS. The ocular histopathology of homocystinuria. A light and electron microscopic study. Am J Ophthalmol 1972;74:377–385.

    PubMed  CAS  Google Scholar 

  226. Rennert OM. The Marchesani syndrome. A brief review. Am J Dis Child 1969;117:703–705.

    PubMed  CAS  Google Scholar 

  227. Resnick K, Zuckerman J, Cotlier E. Cohen syndrome with bull’s eye macular lesion. Ophthalmic Paediatr Genet 1986;7:1–8.

    PubMed  CAS  Google Scholar 

  228. Riedner ED, Levin LS, Holliday MJ. Hearing patterns in dominant osteogenesis imperfecta. Arch Otolaryngol 1980;106:737–740.

    PubMed  CAS  Google Scholar 

  229. Riggs W Jr, Seibert J. Cockayne’s syndrome. Roentgen findings. Am J Roentgenol 1972;116:623.

    Google Scholar 

  230. Ringpfeil F, Lebwohl MG, Christiano AM, Uitto J. Pseudoxanthoma elasticum: mutations in the MRP6 gene encoding a transmembrane ATP-binding cassette (ABC) transporter. Proc Natl Acad USA 2000;97:6001–6006.

    CAS  Google Scholar 

  231. Robbins JH, Kraemer KH, Lutzner MA, et al. Xeroderma pigmentosum: an inherited disease with sun sensitivity, multiple cutaneous neoplasms, and abnormal DNA repair. Ann Intern Med 1974;80:221–248.

    PubMed  CAS  Google Scholar 

  232. Roberts WM, Jenkins JJ, Moorhead EL, Douglass EC. Incontinentia pigmenti, a chromosomal instability syndrome, is associated with childhood malignancy. Cancer (Phila) 1988;62:2370.

    CAS  Google Scholar 

  233. Rodini ESO, Richieri-Costa A. EEC syndrome: report of 20 new patients, clinical and genetic considerations. Am J Med Genet 1990;37:42–53.

    PubMed  CAS  Google Scholar 

  234. Rollnick BR, Hoo JJ. Genitourinary anomalies are a component of the ectodermal dysplasia, ectrodactyly, cleft lip/palate (EEC) syndrome. Am J Med Genet 1988;29:131–136.

    PubMed  CAS  Google Scholar 

  235. Roper SS, Spraker MK. Cutaneous histiocytosis syndromes. Paediatr Dermatol 1985;3:19–30.

    CAS  Google Scholar 

  236. Rosen E. Fundus in pseudoxanthoma elasticum. Am J Ophthalmol 1968;66:236–244.

    PubMed  CAS  Google Scholar 

  237. Rovin S, Dachi SF, Borenstein DB, Cotter WB. Mandibulofacial dysostosis. A familial study of five generations. J Pediatr 1964;65:215–221.

    PubMed  CAS  Google Scholar 

  238. Royce PM, Steimann B, Vogel A, Steinhorst U, Kohlschuetter A. Brittle cornea syndrome: an heritable connective tissue disorder distinct from Ehlers-Danlos syndrome type VI and fragilis oculi, with spontaneous perforations of the eye, blue sclerae, red hair, and normal collagen lysyl hydroxylation. Eur J Pediatr 1990;149:465–469.

    PubMed  CAS  Google Scholar 

  239. Ruben JB, Morris RJ, Judisch GF. Chorioretinal degeneration in infantile malignant osteopetrosis. Am J Ophthalmol 1990;110:1–5.

    PubMed  CAS  Google Scholar 

  240. Rudiger RA, Haase W, Passarge E. Association of ectrodactyly, ectodermal dysplasia, and cleft lip-palate. Am J Dis Child 1970;120:160–163.

    PubMed  CAS  Google Scholar 

  241. Russell LJ, DiGiovanna JJ, Hashem N, Compton JG, Bale SJ. Linkage of autosomal recessive lamellar ichthyosis to chromosome 14q. Am J Hum Genet 1994;55:1146–1152.

    PubMed  CAS  Google Scholar 

  242. Sakai LY, Keene DR, Engvall E. Fibrillin, a new 350-kD glycoprotein, is a component of extracellular microfibrils. J Cell Biol 1986; 103:2499–2509.

    PubMed  CAS  Google Scholar 

  243. Sanders RC, Broers CJM, Pyeritz RE. Sonography of the Marfan syndrome in utero. (Abstract). Am J Med Genet 1989;32:239.

    Google Scholar 

  244. Sanders TE. Intraocular juvenile xanthogranuloma. Trans Am Ophthalmol Soc 1960;58:59–74.

    PubMed  CAS  Google Scholar 

  245. Secretan M, Zografos L, Guggisberg D, Piguet B. Chorioretinal vascular abnormalities associated with angioid streaks and pseudoxanthoma elasticum. Arch Ophthalmol 1998;116:1333–1336.

    PubMed  CAS  Google Scholar 

  246. Seery CM, Pruett RC, Liberfarb RM, Choen BZ. Distinctive cataract in the Stickler syndrome. Am J Ophthalmol 1990;110:143–148.

    PubMed  CAS  Google Scholar 

  247. Sefiani A, Abel L, Hellert ZS, et al. The gene for incontinentia piigmenti is assigned to Xq28. Genomics 1989;4:427–429.

    PubMed  CAS  Google Scholar 

  248. Sefiani A, M’rad R, Simard L, et al. Linkage relationship between incontinentia pigmenti (IP2) and nine terminal X long arm markers. Hum Genet 1991;86:297–299.

    PubMed  CAS  Google Scholar 

  249. Seguin LR, et al. Ultraviolet light-induced chromosomal aberrations in culture cells from Cockayne syndrome and complementation group C xeroderma pigmentosum patients: lack of correlation with cancer susceptibility. Am J Hum Genet 1988;42:468.

    PubMed  CAS  Google Scholar 

  250. Shapiro LJ, Weiss R, Buxmann MM, et al. Enzymatic basis of typical x-linked ichthyosis. Lancet 1978;2:756–757.

    PubMed  CAS  Google Scholar 

  251. Sheffield LJ, et al. Chondrodysplasia punctata: 23 cases of a mild and relatively common variety. J Pediatr 1976;89:916–923.

    PubMed  CAS  Google Scholar 

  252. Sheffield LJ, Osborn AH, Hutchison WM, et al. Segregation of mutations in arylsulphatase E and correlation with the clinical presentation of chondrodysplasia punctata. J Med Genet 1998;35:1004–1008.

    PubMed  CAS  Google Scholar 

  253. Shemen LJ, et al. Cockayne syndrome, an audiologic and temporal bone analysis. Am J Otolaryngol 1984;5:300.

    CAS  Google Scholar 

  254. Sherer DW, Bercovitch L, Lebwohl M. Pseudoxanthoma elasticum: significance of limited phenotypic expression in parents of affected offspring. J Am Acad Dermatol 2001;44:534.

    PubMed  CAS  Google Scholar 

  255. Shimizu K. Mottled fundus in association with PXE. Jpn J Ophthalmol 1961;5:1–13.

    Google Scholar 

  256. Silengo MC, Luzzatti L, Silverman FN. Clinical and genetic aspects of Conradi-Hunermann disease. J Pediatr 1980;97:911–917.

    PubMed  CAS  Google Scholar 

  257. Silengo MC, et al. Distinctive skeletal dysplasia in Cockayne syndrome. Pediatr Radiol 1986;16:264.

    Google Scholar 

  258. Sillence DO, Rimoin DL. Classification of osteogenesis imperfecta. Lancet 1978;1:1042.

    Google Scholar 

  259. Sillence DO, Barlow KK, Garber AP, Hall JG, Rimoin DL. Osteogenesis imperfecta type II: delineation of the phenotype with reference to genetic heterogeneity. Am J Med Genet 1984;17:407–423.

    PubMed  CAS  Google Scholar 

  260. Sisk HE, Zahka KG, Pyeritz RE. The Marfan syndrome in early childhood: analysis of 15 patients diagnosed at less than 4 years of age. Am J Cardiol 1983;52:353–358.

    PubMed  CAS  Google Scholar 

  261. Sjogren T, Larsson T. A clinical and genetic study of oligophrenia in combination with congenital ichthyosis and spastic disorders. Acta Psychiatr Neurol Scand 1957;32(suppl 113):1–112.

    Google Scholar 

  262. Skinner BA, Greist MC, Norins AL. The keratitis, ichthyosis, and deafness (KID) syndrome. Arch Dermatol 1981;117:285–289.

    PubMed  CAS  Google Scholar 

  263. Sly WS, Whyte MP, Sundaram V, et al. Carbonic anhydrase II deficiency in 12 fmilies with the autosomal recessive syndrome of osteopetrosis with renal tubular acidosis and cerebral calcification. N Engl J Med 1985;313:139.

    PubMed  CAS  Google Scholar 

  264. Snead MP, Yates JR. Clinical and molecular genetics of Stickler syndrome. J Med Genet 1999;36:353–359.

    PubMed  CAS  Google Scholar 

  265. Sonada T, Hashimoto H, Enjoji M. Juvenile xanthogranuloma. Cancer (Phila) 1985;56:2280–2286.

    Google Scholar 

  266. Spallone A. Incontinentia pigmenti (Bloch-Sulzberger syndrome). Seven case reports from one family. Br J Ophthalmol 1987;71:629–634.

    PubMed  CAS  Google Scholar 

  267. Spallone A. Stickler’s syndrome: a study of 12 families. Br J Ophthalmol 1987;71:504–509.

    PubMed  CAS  Google Scholar 

  268. Spranger JW, Opitz JM, Bidder U. Heterogeneity of chrondrodysplasia punctata. Humangenetik 1971;11:190–212.

    PubMed  CAS  Google Scholar 

  269. Stevens AM, Johnson FC. A new eruptive fever associated with stomatitis and ophthalmia: report of two cases in children. Am J Dis Child 1922;24:526.

    Google Scholar 

  270. Stickler GB, Belu PG, Farrell FG, et al. Hereditary progressive arthroophthalmopathy. Mayo Clin Proc 1965;40:433–455.

    PubMed  CAS  Google Scholar 

  271. Stickler GB, Pugh DG. Hereditary progressive arthroophthalmopathy: additional observations on vertebral abnormalities, a hearing defect, and a report of a similar case. Mayo Clin Proc 1967;42:495–500.

    Google Scholar 

  272. Struk B, Neldner KH, Rao VS, St Jean P, Lindpainter K. Mapping of both autosomal recessive and dominant variants of pseudoxanthoma elasticum to chromosome 16p13. 1. Hum Mol Genet 1997;6:1823–1828.

    CAS  Google Scholar 

  273. Sugar HS. Oculodentodigital dysplasia syndrome with angleclosure glaucoma. Am J Ophthalmol 1978;86:36.

    PubMed  CAS  Google Scholar 

  274. Sugar HS, Thompson JP, Davis JD. The oculo-dento-digital dysplasia syndrome. Am J Ophthalmol 1966;61:1448.

    PubMed  CAS  Google Scholar 

  275. Sulzberger MB. Uber eine bisher nicht beschriebene congenitale Pigmentanomalie (incontinentia pigmenti). Arch Dermatol Syphilol (Berl) 1928;154:535–542.

    Google Scholar 

  276. Summers CG, Creel D, Townsend D, King RA. Variable expression of vision in sibs with albinism. Am J Hum Genet 1991;40:327–331.

    CAS  Google Scholar 

  277. Tahvanainen E, Norio R, Karila E, et al. Cohen syndrome gene assigned to the long arm of chromosome 8 by linkage analysis. Nat Genet 1994;7:201–204.

    PubMed  CAS  Google Scholar 

  278. Tanaka K, Kawai K, Kumahara Y, Ikenaga M, Okada Y. Genetic complementation groups in Cockayne syndrome. Somatic Cell Genet 1981;7:445.

    PubMed  CAS  Google Scholar 

  279. Teekhasaenee C, Ritch R, Rutnin U, Leelawongs N. Glaucoma in oculodermal melanocytosis. Ophthalmology 1990;97:562–570.

    PubMed  CAS  Google Scholar 

  280. Temple IK. Stickler syndrome. J Med Genet 1989;26:119–126.

    PubMed  CAS  Google Scholar 

  281. The International Incontinentia Pigmenti Consortium. Genomic rearrangement in NEMO impairs NF-kappa-B activation and is a cause of incontinentia pigmenti. Nature (Lond) 2000;405:466–472.

    Google Scholar 

  282. Traboulsi EI, Faris BM, Der Kaloustian VM. Persistent hyperplastic primary vitreous and recessive oculo-dento-osseous dysplasia. Am J Med Genet 1986;24:95.

    PubMed  CAS  Google Scholar 

  283. Traboulsi EI, Izin A, Massicotte SJ, et al. Posterior scleral choristoma in the organoid nevus syndrome (linear sebaceous of Jadassohn). Ophthalmology 1999;10:2126–2130.

    Google Scholar 

  284. Traboulsi EI, Maumenee IH. Bilateral melanosis of the iris. Am J Ophthalmol 1987;103:115–116.

    PubMed  CAS  Google Scholar 

  285. Traboulsi EI, Maumenee IH, Kolsky M, Wilson D, Weleber R. Ophthalmologic findings in chondrodysplasia punctata (Abstract). Ophthalmology 1989.

    Google Scholar 

  286. Traboulsi EI, Parks MM. Glaucoma in oculo-dento-osseous dysplasia. Am J Ophthalmol 1990;109:310–313.

    PubMed  CAS  Google Scholar 

  287. Traboulsi EI, DeBecker I, Maumenee IH. Ocular findings in Cockayne syndrome. Am J Ophthalmol 1992;114:579–583.

    PubMed  CAS  Google Scholar 

  288. Traboulsi EI, Whittum-Hudson J, Mir S, Maumenee IH. Microfibril abnormalities of the lens capsule in patients with Marfan syndrome and ectopia lentis. Ophthalmic Genet 2000;21:9–15.

    PubMed  CAS  Google Scholar 

  289. Tse K, Temple IK, Baraitser M. Dilemmas in counseling: the EEC syndrome. J Med Genet 1990;27:752–757.

    PubMed  CAS  Google Scholar 

  290. Tsipouras P, Del Mastro R, Sarfarazi M, et al. Genetic linkage of the Marfan syndrome, ectopia lentis, and congenital contractural arachnodactyly to the fibrillin genes on chromosomes 15 and 5. N Engl J Med 1992;326:905–909.

    PubMed  CAS  Google Scholar 

  291. Tucker K, Lipson A. Choanal atresia as a feature of ectrodactylyectodermal dysplasia-clefting (EEC) syndrome: a further case [Letter]. J Med Genet 1990;27:213.

    PubMed  CAS  Google Scholar 

  292. Uitto AU, et al. Focal dermal hypoplasia: abnormal characteristics of skin fibroblasts in culture. J Invest Dermatol 1980;75:170–175.

    PubMed  CAS  Google Scholar 

  293. van Dorp DB, Delleman JW, Loewer-Sieger DH. Oculocutaneous albinism and anterior chamber cleavage malformations. Not a coincidence. Clin Genet 1984;26:440–444.

    PubMed  Google Scholar 

  294. Viljoen DL, Pope FM, Beighton P. Heterogeneity of pseudoxanthoma elasticum: delineation of a new form? Clin Genet 1987;32:100–105.

    PubMed  CAS  Google Scholar 

  295. Vintiner GM, Temple IK, Middleton-Price HR, Baraitser M, Malcolm S. Genetic and clinical hetrogeneity of Stickler syndrome. Am J Med Genet 1991;41:44–48.

    PubMed  CAS  Google Scholar 

  296. Vogel A, Holbrook A, Steinmann B, Gitzelmann R, Byers PH. Abnormal collagen fibril structure in the gravis form (type I) of Ehlers-Danlos syndrome. Lab Investig 1979;40:201–206.

    PubMed  CAS  Google Scholar 

  297. Wachtel JG. The ocular pathology of Marfan’s syndrome. Arch Ophthalmol 1966;76:512–522.

    PubMed  CAS  Google Scholar 

  298. Wagner H. Ein bisher unbekanntes Erbleiden des Auges (degeneratio hyaloideo-retinalis hereditaria), beobachtet im Kanton Zurich. Klin Monatsbl Augenheilkd 1938;100:840–857.

    Google Scholar 

  299. Wanders RJA, Saelman D, Heymans HSA, et al. Genetic relation between the Zellweger syndrome, infantile refsum disease, and rhizomelic chondrodysplasia punctata. N Engl J Med 1986;314: 787–788.

    PubMed  CAS  Google Scholar 

  300. Warburg M, Pedersen SA, Horlyk H. The Cohen syndrome. Retinal lesions and granulocytopenia. Ophthalmic Paediatr Genet 1990;11: 7–13.

    PubMed  CAS  Google Scholar 

  301. Watzke RC, Stevens ST, Carney RG. Retinal vascular changes of incontinentia pigmenti. Arch Ophthalmol 1976;94:743–746.

    PubMed  CAS  Google Scholar 

  302. Weill G. Ectopie des crystallins et malformations generales. Annu Oculist 1932;169:21–44.

    Google Scholar 

  303. Weintraub DM, Baum JL, Pashayan HM. A family with oculodentodigital dysplasia. Cleft Palate J 1975;12:323.

    PubMed  CAS  Google Scholar 

  304. Wells RS, Kerr CB. Genetic classification of ichthyosis. Arch Dermatol 1965;92:1–6.

    Google Scholar 

  305. Wells RS, Kerr CB. Clinical features of autosomal dominant and sex-linked ichthyosis in an English population. Br Med J 1966;1: 947–950.

    Google Scholar 

  306. Wenstrup RJ, Willing MC, Starman BJ, Byers PH. Distinct biochemical phenotypes predict clinical severity in nonlethal variants of osteogenesis imperfecta. Am J Hum Genet 1990;46:975–982.

    PubMed  CAS  Google Scholar 

  307. Wheatley HM, Traboulsi EI, Flowers BE, Maumenee IH, Whittum-Hudson J. Immunohistochemical localization of fibrillin in human ocular tissues. Arch Ophthalmol 1995;113:103–109.

    PubMed  CAS  Google Scholar 

  308. White JG, Clawson CC. The Chediak-Higashi syndrome: the nature of the giant neutrophil granules and their interactions with cytoplasm and foreign particulates. Am J Pathol 1980;98:151.

    PubMed  CAS  Google Scholar 

  309. Wilkin DJ, Artz AS, South S, et al. Small deletions in the type II collagen triple helix produce Kniest dysplasia. Am J Med Genet 1999;85:105–112.

    PubMed  CAS  Google Scholar 

  310. Willi M, Kut L, Cotlier E. Pupillary block glaucoma in the Marchesami syndrome. Arch Ophthalmol 1973;90:504–508.

    PubMed  CAS  Google Scholar 

  311. Winterpracht A, Hilbert M, Schwarze U, Mundlos S, Spranger J, Zabel RU. Kniest and Stickler dysplasia phenotypes caused by collagen type II gene (COL2A1) defect. Nat Genet 1993;3:323–326.

    Google Scholar 

  312. Wright KM, Chrousos GA. Weill-Marchesani syndrome with bilateral angle-closure glaucoma. J Pediatr Ophthalmol Strabismus 1985;22:129–132.

    PubMed  CAS  Google Scholar 

  313. Zimmerman LE. Ocular lesions of juvenile xanthogranuloma. Am J Ophthalmol 1965;60:1011–1035.

    PubMed  CAS  Google Scholar 

  314. Zlotogora J, BenEzra D, Cohen T, Cohen E. Syndrome of brittle cornea, blue sclera, and joint hyperextensibility. Am J Med Genet 1990;36:269–272.

    PubMed  CAS  Google Scholar 

Download references

Authors
  1. Elias I. Traboulsi
    View author publications

    You can also search for this author in PubMed Google Scholar

Editor information

Editors and Affiliations

  1. Wright Foundation for Pediatric Ophthalmology, Los Angeles, CA, USA

    Kenneth W. Wright MD (Director and Clinical Professor of Ophthalmology) (Director and Clinical Professor of Ophthalmology)

  2. Pediatric Ophthalmology, Cedars-Sinai Medical Center, Los Angeles, CA, USA

    Kenneth W. Wright MD (Director and Clinical Professor of Ophthalmology) (Director and Clinical Professor of Ophthalmology)

  3. University of Southern California—Keck School of Medicine, Los Angeles, CA, USA

    Kenneth W. Wright MD (Director and Clinical Professor of Ophthalmology) (Director and Clinical Professor of Ophthalmology)

  4. Focus On You, Inc., Palm Desert, CA, USA

    Peter H. Spiegel MD

  5. Inland Eye Clinic, Murrieta, CA, USA

    Peter H. Spiegel MD

  6. Children’s Eye Institute, Upland, CA, USA

    Peter H. Spiegel MD

  7. Stroger Hospital of Cook County, Chicago, IL, USA

    Lisa S. Thompson MD (Attending Physician) (Attending Physician)

Rights and permissions

Reprints and permissions

Copyright information

© 2006 Springer Science+Business Media, Inc.

About this chapter

Cite this chapter

Traboulsi, E.I. (2006). Connective Tissue, Skin, and Bone Disorders. In: Wright, K.W., Spiegel, P.H., Thompson, L.S. (eds) Handbook of Pediatric Eye and Systemic Disease. Springer, New York, NY. https://doi.org/10.1007/0-387-27928-8_5

Download citation

  • DOI: https://doi.org/10.1007/0-387-27928-8_5

  • Publisher Name: Springer, New York, NY

  • Print ISBN: 978-0-387-27927-5

  • Online ISBN: 978-0-387-27928-2

  • eBook Packages: MedicineMedicine (R0)

Publish with us

Policies and ethics

Search

Navigation