Skip to main content
SpringerLink
Log in

O

  • Chapter
Lexikon der Syndrome und Fehlbildungen

  • 32 Accesses

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

Access this chapter

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 54.99
Price excludes VAT (USA)
  • Available as PDF
  • Read on any device
  • Instant download
  • Own it forever

Tax calculation will be finalised at checkout

Purchases are for personal use only

Institutional subscriptions

Preview

Unable to display preview. Download preview PDF.

Unable to display preview. Download preview PDF.

Literatur

  • François, J., G. Verriest et A. de Rouck, La maladie d’OGUCHI. Ophthalmologe 131 (1969) 1–40.

    Google Scholar 

  • Kaye, C.I., A.O. Martin, B.R. Rollnick et al., Oculoauriculovertebral anomaly: Segregation analysis. Am. J. Med. Genet. 43 (1992) 913–917.

    Article  PubMed  CAS  Google Scholar 

  • Morrison, PJ., H.C. Mulholland, B.G. Craig and N.C. Nevin, Cardiovascular abnormalities in the oculo-auriculo-vertebral spectrum (Goldenhar Syndrome). Am. J. Med. Genet. 44 (1992) 425–428.

    Article  PubMed  CAS  Google Scholar 

  • Schrander-Stumpel, C.T.R.M., C.E.M. de Die-Smulders, R. C.M. Hennekam, J.-P. Fryns, P.X.J.M. Bouckaert, O.F. Brouwer. J. J. da Costa, E.J.P. Lommen and P.D. Maaswinkel-Mooy, Oculoauriculovertabral spectrum and cerebral anomalies. J.Med.Genet. 29 (1992) 326–331.

    Article  PubMed  CAS  Google Scholar 

  • Patton, M.A. and K.M. Laurence, Three new cases of oculodentodigital (ODD) syndrome: development of the facial phenotype. J.Med.Genet. 22 (1985) 386–389.

    Article  PubMed  CAS  Google Scholar 

  • Warburg, M., An update on microphthalmos and coloboma. A brief survey of genetic disorders with microphthalmos and coloboma. Ophthalm.Paediatr.Genet. 12 (1991) 57–63.

    Article  CAS  Google Scholar 

  • Fryns, J.P., A.H. Dereymaeker, G. Heremanns, J. Marien, J. van Hauwaert, G. Turner, A. Hockey and H. van den Berghe, Oculocerebral syndrome with hypopigmentation (CROSS syndrome): Report of two siblings, born to consanquineous parents. Clin.Genet. 34 (1988) 81–84.

    Article  PubMed  CAS  Google Scholar 

  • Lerone, M., A. Pessagno, A. Taccone, G. Poggi, G. Romeo and M.C. Silengo, Oculocerebral syndrome with hypopigmentation (CROSS syndrome): report of a new case. Clin.Genet. 41 (1992) 87–89.

    Article  PubMed  CAS  Google Scholar 

  • Loggers, H.E., J.C. Oosterwjik, W.C.G. Overweg-Plandsoen et al., Encephalocraniocutaneous lipomatosis and oculocerebrocutaneous syndrome. A differential diagnostic problem? Ophthalmic Paediatr.Genet. 13 (1992) 171–177.

    Article  PubMed  CAS  Google Scholar 

  • Elejalde, B.R., M.M. de Elejalde, C. Booth, C. Kaye, L. Hollison, Prenatal diagnosis of Weyers’ syndrome (deficient ulnar and fibular ray with bilateral hydronephrosis) Am.J. Med.Genet. 21 (1985) 439–444.

    Article  PubMed  CAS  Google Scholar 

  • Turnpenny, P.D., J.C.S. Dean, P. Duffy, J.A.Reid and P. Carter, Weyers’ ulnar ray/oligodactyly syndrome and the association of midline malformations with ulnar ray defects. J.Med. Gent. 29 (1992) 659–662.

    Article  CAS  Google Scholar 

  • Alsaadi, A.A., M. Yoshimoto, R. Bree, J. Farah, C.H. Chang, S. Sahney, M.H.K. Shokeir and J.Bernstein, A family study of renal dysplasia. Am. J. Med. Genet. 19 (1984) 669–677.

    Article  CAS  Google Scholar 

  • Bankier, A., M. de Campo, R. Newell, J.G. Rogers and D. M. Danks, A pedigree study of perinatally lethal renal disease. J.Med. Genet. 22 (1985) 104–111.

    Article  PubMed  CAS  Google Scholar 

  • Curry, C.J.R., K. Jensen, J. Holland, L. Miller and B.D. Hall, The Potter sequence: a clinical analysis of 80 cases. Am.J. Med.Genet. 19 (1984) 679–702.

    Article  PubMed  CAS  Google Scholar 

  • Moerman, P., J.-P. Fryns, S.H. Sastrowijoto et al., Hereditary renal adysplasia: New observations and hypotheses. Pediatr.Pathol. 14 (1994) 405–410.

    Article  PubMed  CAS  Google Scholar 

  • Thomas, L.T., F.M. Honore. T. Jewett et al., Holzgreve syndrome: recurrence in sibs. Am. J. Med. Genet. 45 (1993) 767–769.

    Article  PubMed  CAS  Google Scholar 

  • Boxavá, A., P. Maroteaux, J. Barosová and I. Netriová. Parental consanguinity in two sibs with omodysplasia. Am.J.Med. Genet. 49 (1994) 263–265.

    Article  Google Scholar 

  • Maroteaux, P., J. Sauvegrain, J. Chrispin and J.P. Farriaux, Omodysplasty. Am. J. Med. Genet. 32 (1989) 371–375.

    Article  PubMed  CAS  Google Scholar 

  • Calzolari, E., S. Volpato, F. Bianchi et al., Omphalocele and gastroschisis: A collaborative study of five Italian congenital malformation registries. Teratology 47 (1993) 47–55.

    Article  Google Scholar 

  • DiLiberti, J.H., Familial omphalocele: analysis of risk factors and case report. Am. J. Med. Genet. 13 (1982) 263–268.

    Google Scholar 

  • Smith, N.M., H.M. Chambers, M.E. Furnes and E.A. Haan, The OEIS complex (omphaloceleexstrophy-imperforate anus-spinal defects): recurrence in sibs. J.Med.Genet. 29 (1992) 730–732.

    Article  PubMed  CAS  Google Scholar 

  • Yang, P., T.H. Beaty, M.J. Khoury et al., Genetic-epidemiologic study of omphalocele and gastroschisis: Evidence for heterogeneity. Am. J. Med. Genet. 44 (1992) 668–675.

    Article  PubMed  CAS  Google Scholar 

  • Verloes, A., C. Elmer, D. Lacombe et al., ONDINE-Hirschsprung syndrome (Haddad syndrome). Further delineation in two cases and review of the e. Eur.J. Pediatr. 152 (1993) 75–77.

    Article  PubMed  CAS  Google Scholar 

  • Yasuma, F., H. Hirose, T. Abe and A. Seki, Congenital central alveolar hypoventilation (ONDINE’s curse): a case report and a review of the e. Europ.J.Pediat. 146 (1987) 81–83.

    Article  PubMed  CAS  Google Scholar 

  • Houtman, W.A., T.W. van Weerden, P.H. Robinson et al., Hereditary congenital external ophthalmoplegia. Ophthalmologica 193 (1986) 207–218.

    Article  PubMed  CAS  Google Scholar 

  • Seibel, P, J. Lauber. T. Klopstock et al., Chronic progressive external ophthalmoplegia is associated with a novel mutation in the mitochondrial tRNA (Asn) gene. Biochem.Biophys.Res. Commun. 204 (1994) 482–489.

    CAS  Google Scholar 

  • Beemer, F.A., und K.S. Kozlowski, Additional case of opsismodysplasia supporting autosomal rezessive inheritance. Am.J. Med.Genet. 49 (1994) 344–347.

    Article  PubMed  CAS  Google Scholar 

  • Eilberg, H., B. Kjer, P. Kjer and T.Rosenberg, Dominant optic atrophy (OPA1) mapped to chromosome 3q. I.Linkage analysis. Hum.Molec.Genet. 3 (1994) 977–980.

    Article  Google Scholar 

  • Kormann, B.A., H. Schuster, T.A. Berninger and B. Leo-Kottler, Detection of the G to A mitochondrial DNA mutation at position 11778 in German families with Lebers’S hereditary optic neuropathy. Hum.Genet. 88 (1991) 98–100.

    Article  PubMed  CAS  Google Scholar 

  • Neetens, A. and J.J. Martin, The hereditary familial optic atrophies. Neurophthalmology 6 (1986) 277–297.

    Article  Google Scholar 

  • Pilu, G., F. Sandri, M. Cerisoli et al., Sonographic findings in septo-optic dysplasia in the fetus and newborn infant. Am.J.Perinatol. 7 (1990) 337–339.

    Article  PubMed  CAS  Google Scholar 

  • Ykizane,S., Y. Kimura, Y. Yamashita et al., Growth hormone deficiency of hypothalamic origin in septo-optic dysplasia. Eur.J.Pediatr. 150 (1990) 30–33

    Article  Google Scholar 

  • Nevin, N.C., J. Silvestri, D.C. Kernohan and W.M-Hutchinson, Oral-facial-digital Syndrome with retinal abnormalities: OFD type IX. A further case. Am. J. Med. Genet. 51 (1994) 228–231.

    Article  PubMed  CAS  Google Scholar 

  • Toriello, H.V., Oral-facial-digital Syndromes 1992. Clin.Dysmorphol. 2 (1993) 95–105.

    PubMed  CAS  Google Scholar 

  • Edwards, M., D. Mulcahy and G. Turner, X-linked recessive inheritance of an orofaciodigital syndrome with partial expression on females and survival of affected males. Clin.Genet. 34 (1988) 325–332.

    Article  PubMed  CAS  Google Scholar 

  • Goodship, J., J. Piatt, R. Smith and J. Burn, A male with type I orofacialdigital syndrome. J. Med.Genet. 28 (1991) 691–694.

    Article  PubMed  CAS  Google Scholar 

  • Salinas, C.F., G.S. Pai, C.L. Vera, J.Milutinovic et al., Variability of expression of the orofaciodigital syndrome type I in black females: Six cases. Am. J. Med. Genet. 38 (1991) 574–582.

    Article  PubMed  CAS  Google Scholar 

  • Bensen, J.T., L.H. Nelson, M.J. Pettenati, S.M.Block et al., First report of management and outcome of pregnancies associated with hereditary orotic aciduria. Am. J. Med. Genet. 41 (1991) 426–431.

    Article  PubMed  CAS  Google Scholar 

  • Suttle, D.P, B.Y. Bugg, J.K. Winkler and J.J.Kanalas, Molecular cloning and nucleotide sequence for the complete region of human UMP synthase. Proc.Nat.Acad.Sci.USA 85 (1988) 1754–1758.

    Article  PubMed  CAS  Google Scholar 

  • McDonald, MX, K.A. Papenberg, S. Ghosh, A.A. Glatfelter, B.B. Biesecker et al., A disease locus for hereditary haemorrhagic teleangiectasia maps to chromosome 9q33-34. Nature Genetics 6 (1994) 197–203.

    Article  PubMed  CAS  Google Scholar 

  • Cooke, D.A.P., Case report. Renal arteriovenous malformation demonstrated angiographically in hereditary haemorhagic teleangiectasia (Rendu-Osler-Weber disease). J.Roy.Soc. Med. 79 (1986) 744–746.

    CAS  Google Scholar 

  • Kosloske, A.M., P.F. Jewell and K.C. Cartwright, Crucial bronchoscopic findings in esophageal atresia and tracheoesophageal fistula. J.Pediat.Surg. 23 (1988) 466–470.

    Article  PubMed  CAS  Google Scholar 

  • Pohlson, E-C., R.T. Schaller and D. Tapper, Improved survival with primary anastomosis in the low birth weight neonata with esophageal atresia and tracheoesophageal fistula. J.Pediat.Surg. 23 (1988) 418–421.

    Article  PubMed  CAS  Google Scholar 

  • Rokitansky, A., Analysis of 309 cases of esophageal atresia for associated congenital malformations. Am.J.Perinatol. 11 (1994) 123–128.

    Article  PubMed  CAS  Google Scholar 

  • Von der Oelsnitz, G., A. Arzberger und H. Gitter, Therapie postoperativer Komplikationen bei langstreckigen Ösophagusatresien. Langenbecks Arch.Klin.Chir. 372 (1987) 723.

    Article  Google Scholar 

  • Whalen, T.V. jr., D.M. Albin and M.M. Woolley, Esophageal atresia and tracheoesophageal fistula in twins. Anatomic variants. Ann.Surg. 205 (1987) 322–323.

    Article  PubMed  Google Scholar 

  • Gelbert, L., E. Schipani, H. Juppner et al., Chromosomal localization of the paratharoid hormone/parathyroid hormone-related protein receptor gene to human chromosome 3p21.1 –p24.2. J.Clin.Endocrinol.Metab. 79 (1994) 1046–1048.

    Article  PubMed  CAS  Google Scholar 

  • Levine,M.A., T.G.Ahn, S.F.Klupt et al., Genetic deficiency of the a-subunit for the guanine nucleotide-binding protein (G(s) as the molecular basis for Albrigths’S hereditary osteodystrophy. Proc.Nat.Acad.Sci.USA 85 (1988) 617–621.

    Article  PubMed  CAS  Google Scholar 

  • Weinstein, L.S., P.V.Gejman, E.Friedman et al., Mutations of the G(s) a-subunit gene in ALBRIGHT hereditary osteodystrophy detected by denaturing gradient gel electrophoresis. Proc. Nat.Acad.Sci.USA 87 (1990) 8287–8290.

    Article  PubMed  CAS  Google Scholar 

  • Bonadio, J., F. Ramirez and M. Barr, An intron mutation in the human l(I)collagen gene alters the efficiency of pre-mRNA splicing and is associated with osteogenesis imperfecta type II. J.Biol.Chem. 265 (1990) 2262–2268.

    PubMed  CAS  Google Scholar 

  • Cohen-Solal, L., J.Bonaventure and P.Maroteaux, Dominant mutations in familial lethal and severe osteogenesis imperfecta. Hum.Genet. 87 (1991) 297–301.

    Article  PubMed  CAS  Google Scholar 

  • Cole, W.G., P.E. Campbell, J.G. Rogers and J.F. Bateman, The clinical features of osteogenesis imperfecta resulting from a non-functional carboxy terminal pro 1(1) propeptide of type I procollagen and a severe deficiency of normal type I collagen in tissues. J.Med.Genet. 27 (1990) 545–551.

    Article  PubMed  CAS  Google Scholar 

  • Constantinou, C.D., M. Pack, S.B. Young and D.J. Prockop, Phenotypic heterogeneity in osteogenesis imperfecta: The mildly affected mother of a proband with a lethal variant has the same mutation substituting cysteine for a1-glycine 904 in a type procollagen gene (COL1A1). Am.J.Hum.Genet. 47 (1990) 670–679.

    PubMed  CAS  Google Scholar 

  • Dent, J. A. and C.R. Paterson, Fractures in early childhood: Osteogenesis imperfecta or child abuse ? J.Pediatr.Orthop. 11 (1991) 184–186.

    Article  PubMed  CAS  Google Scholar 

  • Edwards, M.J., R.J. Wenstrup, P.H. Byers and D.H. Cohn, Recurrence of lethal osteogenesis imperfecta due to parental mosaicism for a mutation in the COL1A2 gene of type I collagen. The mosaic patent exhibits phenotypic features of a mild form of the disease. Hum. Mut. 1 (1992) 47–54.

    Article  PubMed  CAS  Google Scholar 

  • Lynch, J.R., D. Ogivie, L. Priestley et al., Prenatal diagnosis of osteogenesis imperfecta by identification of the concordant collagen 1 allele. J.Med.Genet. 28 (1991) 145–150.

    Article  PubMed  CAS  Google Scholar 

  • Nicholls, A.C., J. Oliver, D.V. Renouf, D.A. Heath and F. M. Pope, The molecular defect in a family with mild atypical osteogenesis imperfecta and extreme joint hypermobility: exon skipping caused by an 11-bp deletion from an intron in one COL1A2 allele. Hum.Genet. 88 (1992) 627–633.

    Article  PubMed  CAS  Google Scholar 

  • Nishi, Y., K. Hamamoto, M. Kajimyama, H. Ono, M. Kihara and K. Jinno, Effects of long-term calcitonin therapy by injection and nasal spray on the incidence of fractures in osteogenesis imperfecta. J.Pediatr. 121 (1992) 477–480.

    Article  PubMed  CAS  Google Scholar 

  • Nishi, Y., K. Hamamoto, M. Kajimyama, H. Ono, M. Kihara and K. Jinno, Effects of long-term calcitonin therapy by injection and nasal spray on the incidence of fractures in osteogenesis imperfecta. J.Pediatr. 121 (1992) 477–480.

    Article  PubMed  CAS  Google Scholar 

  • Wallis, G.A., B.J. Starman, M.F. Schwartz and P.H. Byers, Substitution of arginine at position 847 in the triple-helical domain of the a1(1) chain of type I collagen produces lethal osteogenesis imperfecta. Molecules that contain one or two abnormal chains differ in stability and secretion. J.Biol.Chem. 265 (1990) 18628–18633.

    PubMed  CAS  Google Scholar 

  • Hughes, A.E., A.M. Shearman, J.L. Weber et al., Genetic linkage of familial expansive osteolysis to chromosome 18q. Hum.Molec.Genet. 3 (1994) 359–361.

    Article  PubMed  CAS  Google Scholar 

  • Pai, G.S. and R.I. McPherson, Idiopathic multicentric osteolysis. Am. J. Med. Genet. 29 (1988) 929–936.

    Article  PubMed  CAS  Google Scholar 

  • Ros, P., E-Pelaez, N. Gallego, J. Corrbaton and J. Ortuno, Carpal osteolysis: an unusual entity treated by renal transplantation. Nephron 55 (1990) 434–435.

    Article  PubMed  CAS  Google Scholar 

  • Shinohara,O., C. Kubota, M. Kimura and S. Takahashi, Essential osteolysis associated with nephropathy, corneal opacity, and pulmonary stenosis. Am. J. Med. Genet. 41 (1991) 482–486.

    Article  PubMed  CAS  Google Scholar 

  • Urlus, M., P. Roosen, J. Lammens, J. Victor, L. DeSmet, G. Molenaers and G. Fabry, Carpotarsal osteolysis case report and review of the e. Genet.Couns. 4 (1993) 25–36.

    PubMed  CAS  Google Scholar 

  • Günal,I., S. Seber, N. Basaran, S. Artan et al., Dacryocystitis associated with osteopoikilosis. Clin.Genet. 44 (1993) 211–213.

    Article  PubMed  Google Scholar 

  • Sarralde, A., D. Garcia-Cruz, Z. Nazara and J. Sanchez-Corona, Osteopoikilosis: Report of a familial case. Genet.Counsel. 5 (1994) 373–375.

    PubMed  CAS  Google Scholar 

  • Piechowiak, H., F.D. Goebel, C. Hirche and W. Tyrell, Cranial sclerosis with striated bone disease (osteopathia striata). Klin.Pädiat. 198 (1986) 418–424.

    Article  CAS  Google Scholar 

  • Anon., Detection of a mutant collagen gen and its potential as a diagnostic for genetic predisposition for osteoporosis. Curr.Opin.Ther. Path. 3 (1993) 1529–1530.

    Google Scholar 

  • De Paepe, A., J.G. Leroy, L. Nuytinck et al., Osteoporose-pseudoglioma syndrome. Am.J.Med. Genet. 45 (1993) 30–37.

    Article  PubMed  Google Scholar 

  • Capoen, J., A. De Paepa and H. Lauers, The oste-oporosis pseudoglioma syndrome. J.Belge Radiol. 76 (1993) 224–225.

    PubMed  CAS  Google Scholar 

  • Briard, M. L. et J.Frézal, Le pseudo-gliome bilatéral avec os-téoporose généralisée: Une affection récessive autosomique. J.Génét.Hum. 24/Supp. (1976) 65–74.

    Google Scholar 

  • Neuhauser, G., E.G. Kaveggia and J.M. Opitz, Autosomal recessive syndrome of pseudogliomatous blindness, osteoporosis and mild mental retardation. Clin.Genet. 9 (1976) 324–332.

    Article  PubMed  CAS  Google Scholar 

  • Biancalana, V., B. LeMarec, S. Odent, J.A.M. J. van den Hurk and A. Hanauer, Oto-palato-digital Syndrome type I: further evidence for assignment of the locus to Xq28. Hum.Genet. 88 (1991) 228–230.

    Article  PubMed  CAS  Google Scholar 

  • Holder, S.E. and R.M. Winter, Otopalatodigital Syndrome type II. J.Med.Genet. 30 (1993) 310–313.

    Article  PubMed  CAS  Google Scholar 

  • Preis, S., H. Kemperdick and F. Majewski, Oto-palato-digital syndrome type II in two unrelated boys. Clin.Genet. 45 (1994) 154–161.

    Article  PubMed  CAS  Google Scholar 

  • Stoll, C. and Y. Alembik, Oto-palato-digital syndrome type II. Genet.Counsel. 5 (1994) 61–66.

    PubMed  CAS  Google Scholar 

  • Oxlund, H., U. Pedersen, C.C. Danielsen et al., Is otosclerosis a generalized connective tissue disorder ? (Biophysical and biochemical studies of skin biopsies from patients with otosclerosis). J.Laryngol.Otol. 101 (1987) 307–311.

    Article  Google Scholar 

  • Thalmann, I., G. Thallinger and R. Thalmann, Otosclerosis: A local manifestation of a generalized tissue disorder ? Am. J. Otolaryngol.Head Neck Med.Surg. 8 (1987) 303–316.

    Google Scholar 

Download references

Author information

Authors and Affiliations

  1. Institut für medizinische Genetik, Humboldt-Universität zu Berlin, Schumannstraße 20/21, 10117, Berlin, Deutschland

    Prof. Dr. Regine Witkowski

  2. Institut für gerichtliche Medizin, Humboldt-Universität zu Berlin, Hannoversche Straße 6, 10115, Berlin, Deutschland

    Prof. Dr. Dr. h. c. Otto Prokop

  3. Dorf Zechlin 102, 16837, Dorf Zechlin, Deutschland

    Dr. Eva Ullrich

Authors
  1. Prof. Dr. Regine Witkowski
    View author publications

    You can also search for this author in PubMed Google Scholar

  2. Prof. Dr. Dr. h. c. Otto Prokop
    View author publications

    You can also search for this author in PubMed Google Scholar

  3. Dr. Eva Ullrich
    View author publications

    You can also search for this author in PubMed Google Scholar

Rights and permissions

Reprints and permissions

Copyright information

© 1995 Springer-Verlag Berlin Heidelberg

About this chapter

Cite this chapter

Witkowski, R., Prokop, O., Ullrich, E. (1995). O. In: Lexikon der Syndrome und Fehlbildungen. Springer, Berlin, Heidelberg. https://doi.org/10.1007/978-3-642-97628-5_19

Download citation

  • DOI: https://doi.org/10.1007/978-3-642-97628-5_19

  • Publisher Name: Springer, Berlin, Heidelberg

  • Print ISBN: 978-3-642-97629-2

  • Online ISBN: 978-3-642-97628-5

  • eBook Packages: Springer Book Archive

Publish with us

Policies and ethics

Search

Navigation