Abstract
Progeria (from the Greek word “geras” meaning “old Age”) consists on the precocious and rapid ageing and the early onset of age-related complications such as joint restriction and cerebral and myocardial infarction (Roach 2004).
Access this chapter
Tax calculation will be finalised at checkout
Purchases are for personal use only
Preview
Unable to display preview. Download preview PDF.
References
Baker PB, Baba N, Boesel CP (1981) Cardiovascular abnormalities in progeria. Case report and review of the literature. Arch Pathol Lab Med 105: 384–386.
Brown WT, Abdenur J, Goonewardena P, Alemzadeh R, Smith M, Friedman S (1992) Hutchinson-Gilford progeria syndrome: clinical, chromosomal and metabolic abnormalities (Abstract). Am J Hum Genet 47 (Suppl): A50.
D’Apice MR, Tenconi R, Mammi I, van den Ende J, Novelli G (2004) Paternal origin of LMNA mutations in Hutchinson-Gilford progeria. Clin Genet 65: 52–54.
De Busk FL (1972) The Hutchinson-Gilford progeria syndrome. Report of 4 cases and review of the literature. J Pediatr 80: 697–724.
Delgado Luengo W, Rojas Martinez A, Ortiz Lopez R, Martinez Basalo C, Rojas-Atencio A, Quintero M (2002) Del (1) (q23) in a patient with Hutchinson-Gilford progeria. Am J Med Genet 113: 298–301.
De Sandre-Giovannoli A, Bernard R, Cau P, Navarro C, Amiel J, Boccaccio I, Lyonnet S, Stewart CL, Munnich A, Le Merrer M, Levy N (2003) Lamin A truncation in Hutchinson-Gilford progeria. Science 300: 2055.
Devos EA, Leroy JG, Frijns JP, Van den Berghe H (1981) The Wiedemann Rautenstrauch or neonatal progeroid syndrome. Eur J Pediatr 136: 245–248.
Dyck JD, David TE, Burke B, Weebb GD, Henderson MA, Fowler RS (1987) Management of coronary disease in Hutchinson-Gilford síndrome. J Pediatr 111: 407–410.
Eriksson M, Brow WT, Gordon LB, Glynn MW, Singer J, Scott L (2003) Recurrent de novo point mutations in lamin A cause Hutchinson-Gilford progeria syndrome. Nature 423: 293–298.
Feinberg R, Beebe D (1983) Hyaluronate in vasculogenesis. Science 220: 1177–1179.
Gilford H (1904) Progeria: a form of senilism. Practitioner 73: 188–217.
Hadgadorn JL, Wilson WG, Hallen HW, Callicott JH, Beale EF (1990) Neonatal progeroid syndrome: more than one disease? Am J Med Genet 35: 91–94.
Hegele RA (2003) Drawing the line in progeria syndromes. Lancet 362: 416–417.
Hoeffel JC, Mainard L, Chastagner P, Hoeffeld CC (2000) Mandibulo-acral dysplasia. Skel Radiol 29: 668–671.
Hutchinson J (1886) Congenital absence of hair and mammary glands with atrophic condition of the skin and its appendages in a boy whose mother had been almost wholly bald from alopecia areata from the age of six. Trans Med Chir Soc (Edinburgh) 69: 473.
Khalifa MM (1989) Hutchinson-Gilford progeria syndrome: report of a Libyan family and evidence of autosomal recessive inheritance. Clin Genet 35: 125–132.
Korf B (2008) Hutchinson-Gilford progeria syndrome, aging, and the nuclear lamina. N Engl J Med 358: 552–555.
Korniszewski L, Nowak R, Okninska-Hoffmann E (2001) Wiedemann Routenstrauch (neonatal progeroid) syndrome: new case with normal telomere length in skin fibroblasts. Am J Med Genet 103: 144–148.
Maciel AT (1988) Evidence for autosomal recessive inheritance of progeria (Hutchinson Gilford). Am J Med Genet 31: 483–487.
Martinville (de) B, Sorin M, Briard ML, Fresal J (1980) Progeria de Gilford-Hutchinson à debut neonatal chez deux jumeaux monozygotes. Arch Franç Pediatr 37: 679–681.
Matsuo S, Takeuchi Y, Hayashi S, Kinagasa A, Sawada T (1994) Patient with unusual Hutchinson-Gilford syndrome (progeria). Pediatr Neurol 10: 237–240.
Megarbane A, Loiselet J (1997) Clinical manifestation of a severe neonatal progeroid syndrome. Clin Genet 51: 200–204.
Novelli G, Muchir A, Sangiuolo F, Helbling-Leclerc A, D’Apice MR, Massart C, Capon F, Sbraccia P, Federici M, Lauro R, Tudisco C, Pallotta R, Scarano G, Dallapiccola B, Merlini L, Bonne G (2002) Mandibuloacral dysplasia is caused by a mutation in LMNA-encoding lamin A/C. Am J Hum Genet 71: 426–431.
Parkash H (1991) Reply to Dr. Toriello. Am J Med Genet 41: 140.
Parkash H, Sidhu SS, Raghavan R, Deshmukh RN (1990) Hutchinson-Gilford progeria: familial occurrence. Am J Med Genet 36: 431–433.
Pivnick EK, Angle B, Kaufman RA, Hall BD, Pitukcheewanont P, Hersh JH, Fowlkes JL, Sanders LP, O’Brien JM, Carroll GS, Gunther WM, Morrow HG, Burghen GA, Ward JC (2000) Neonatal progeroid (Wiedemann-Reutenstrauch) syndrome. Am J Med Genet 90: 131–140.
Pollex RL, Hegele RA (2004) Hutchinson-Gilford progeria syndrome. Clin Genet 66: 375–381.
Reddel CJ, Weiss AS (2004) Lamin A expression levels are unperturbed at the normal and mutant alleles but display partial splice site deletion in Hutchinson-Hutchinson-Gilford progeria syndrome. J Med Genet 41: 715–717.
Rodriguez JL, Pérez-Alonso P, Funes R, Pérez-Rodriguez J (1999) Letal neonatal Hutchinson-Gilford progeria síndrome. Am J Med Genet 82: 242–248.
Rosman PN, Anslem I (2001) Progressive intracranial vascular disease with strokes and seizures in a boy with progeria. J Child Neurol 16: 212–215.
Sarkar PK, Shinton RA (2001) Hutchison-Gilford progeria syndrome. Postgrad Med J 77: 312–317.
Sweeney KJ, Weiss AS (1992) Hyaluronic acid in progeria and the aged phenotype? Gerontology 38: 139–152.
Toriello HV (1991) Mandibulo-acral “Dysplasia”. Am J Med Genet 41: 138.
Toriello HV (2006) Premature ageing syndromes. In: Harper J, Oranje A, Prose N (eds.) Textbook of Pediatric Dermatology. 2nd ed. Oxford: Blackwell Science, pp. 1538–1556.
Viegas J, Souza LR, Salzano FM (1974) progeria in twins. J Med Genet 11: 384–386.
Wiedemann HR (1987) Progeria. In: Gomez MR (ed.) Neurocutaneos diseases. A practical approach. Stoneham: Butterworth, pp. 247–253.
Zastrow MS, Vlcek S, Wilson K (2004) Proteins that bind A-type lamins: integrating isolated clues. J Cell Sci 117: 979–987.
References
Allsopp RC, Varizi H, Patterson C, Goldstein S, Younglai EV, Futcher AB, Greider CW, Harley CB (1992) Telomere length predicts replicative capacity of human fibroblasts. Proc Natl Acad Sci USA 89: 10114–10118.
Arboleda G, Ramírez N, Arboleda H (2007) The neonatal progeroid syndrome (Wiedemann-Rautenstrauch): a model for the study of human aging? Exp Gerontol 42: 939–943.
Arboleda H, Quintero L, Yunis E (1997) Wiedemann-Rautenstrauch neonatal progeroid syndrome: report of three new patients. J Med Genet 34: 433–437.
Beavan LA, Quentin-Hoffman E, Schonherr E, Snigula F, Leroy JG, Kresse H (1993) Deficient expression of decorin in infantile progeroid patients. J Biol Chem 268: 9856–9862.
Blackburn EH (1994) Telomeres: no end in sight. Cell 77: 621–623.
Bodnar AG, Quelletce M, Frolkis M, Holt SE, Chiu CP, Morin GB, Harley CB, Shay JW, Lichtsteiner S, Wright WE (1998) Extension of lifespan by introduction of telomerase into normal human cells. Science 279: 349–352.
Devos EA, Leroy JG, Frijns JP, Van den Berghe H (1981) The Wiedemann-Rautenstrauch or neonatal progeroid syndrome. Report of a patient with consanguineous parents. Eur J Pediatr 136: 245–248.
Hagadorn JI, Wilson WG, Hogge A, Callicott JH, Veale EF (1990) Neonatal progeroid syndrome: more than one disease? Am J Med Genet 35: 91–94.
Jaeken J, Matthijs G, Barone R, Carchon H (1997) Carbohydrate deficit glycoprotein (CDG) syndrome type 1. J Med Genet 34: 73–76.
Korniszewski L, Nowak R, Okninska-Hoffmann E, Skórka A, Gieruszczak-Bialek D, Sawadro-Rochowska M (2001) Wiedemann-Rautenstrauch (neonatal progeroid) syndrome: new case with normal telomere length in skin fibroblasts. Am J Med Genet 103: 144–148.
Mägarbané A, Loiselet J (1997) Clinical manifestation of a severe neonatal progeroid syndrome. Clin Genet 51: 200–204.
Martin JJ, Ceuterick CM, Leroy JG, Devos EA, Roelens JG (1984) The Wiedemann-Rautenstrauch or neonatal progeroid syndrome: neuropathological study of a case. Neuropediatrics 15: 43–48.
Matsui M, Misayaka J, Hamada K, Ogawa Y, Hiramoto M, Fujimori R, Aioi A (2000) Influence of aging and cell senescence on telomere activity in keratocytes. J Dermatol Sci 22: 80–87.
Norman RM (1940) Primary degeneration of the granular layer of the cerebellum: an unusual form of familial cerebellar atrophy occurring in early life. Brain 63: 365–279.
Pascual-Castroviejo I (2002) Congenital disorders of glycosylation syndromes. Dev Med Child Neurol 44: 357–358.
Pivnick EK, Angle B, Kaufman RA, Hall BD, Pitukcheewanont P, Hersh JH, Fowlkes JL, Sanders LP, O’Brien JM, Carroll GS, Gunther WM, Morrow HG, Burghen GA, Ward JC (2000) Neonatal progeroid (Wiedemann-Rautenstrauch) syndrome: report of five new cases and review. Am J Med Genet 90: 131–140.
Rautenstrauch T, Snigula F (1977) Progeria: a cell culture and clinical report of familial incidence. Eur J Pediatr 124: 101–111.
Rautenstrauch T, Snigula F, Wiedemann HR (1994) Neonatales progeroides syndrom (Wiedemann-Rautenstrauch). Eine follow-up-Studie. Klin Pediatr 206: 440–446.
Rudin C, Thommen L, Fliegel C, Steinmann B, Bühler U (1988) The neonatal pseudo-hydrocephalic progeroid syndrome (Wiedemann-Rautenstrauch): report of a new patient and review of the literature. Eur J Pediatr 147: 433–438.
Toriello HV (2006) Premature ageing syndromes. In: Harper J, Oranje A, Prose N (eds.) Textbook of Pediatric Dermatology. 2nd ed. Oxford: Blackwell Science, pp. 1538–1556.
Ulrich J, Rudin C, Bull R, Riederer BM (1995) The neonatal progeroid syndrome (Wiedemann-Rautenstrauch) and its relationship to Pelizaeus-Merzbacher’s disease. Neuropathol Appl Neurobiol 21: 116–120.
Wiedemann HR (1979) An unidentified neonatal progeroid syndrome: follow-up report. Eur J Pediatr 130: 65–70.
Zakian VA (1995) Telomeres: beginning to understand the end. Science 270: 1601–1607.
References
Anderson NE, Haas LF (2003) Neurological complications of Werner’s syndrome. J Neurol 250: 1174–1178.
Bonne G, Levy N (2003) LMNA mutations in atypical Werner’s syndrome. Lancet 362: 1585–1586.
Cao H, Hegele R (2003) LMNA is mutated in Hutchinson-Gilford progeria (MIM176670) but not in Wiedemann-Rautenstrauch progeroid syndrome (MIM264090). J Hum Genet 48: 271–274.
Chang S, Multani AS, Cabrera NG, Naylor ML, Land P, Lombard D, Pathak S, Guarente L, DePinho RA (2004) Essential role of limiting telomeres in the pathogenesis of Werner syndrome. Nat Genet 36: 877–882.
Chen L, Lee L, Kudlow BA, Dos Santos HG, Sletvold O, Shafeghati Y, Botha EG, Garg A, Hanson NB, Martin GM, Mian IS, Kennedy BK, Oshima J (2003) LMNA mutations in atypical Werner’s syndrome. Lancet 362: 440–445.
De Stefano N, Dotti MT, Battisti C, Sicurelli F, Stromillo ML, Mortilla M, Federico A (2003) MR evidence of structural and metabolic changes in brain of patients with Werner’s syndrome. J Neurol 250: 1169–1173.
Du X, Shen J, Kugan N, Furth EE, Lombard DB, Cheung C, Pak S, Luo G, Pignolo RJ, DePinho RA, Guarente L, Johnson FB (2004) Telomere shortening exposes functions for the mouse Werner and Bloom syndrome genes. Mol Cell Biol 24: 8437–8446.
Fujiwara Y, Higashikawa T, Tatsumi M (1977) A retarded rate of DNA replication and normal level of DNA repair in Werner’s syndrome fibroblasts in culture. J Cell Physiol 92: 365–374.
Furuhata T, Hirata K, Kimura Y, Yanai Y (1998) Werner’s syndrome malnutrition (in Japanase). Surg Frontier 5: 71–73.
Goddard KAB, Yu CE, Oshima J, Miki T, Nakura J, Piussan C, Martin GM, Schellenberg GD, Wijsman EM (1996) Toward localization of the Werner syndrome gene by linkage disequilibrium and ancestral haplotyping: lessons learned from analysis of 35 chromosome 8p11.1-21.1 markers. Am J Hum Genet 58: 1286–1302.
Goto M, Horiuchi Y, Okumura K, Tada T, Kawata M, Ohmorit K (1979) Immunological annormalities of aging: an analysis of T Lymphocyte subpopulations of Werner’s syndrome. J Clin Invest 64: 695–699.
Goto M, Tanimoto K, Horiuchi Y, Sasazuki T (1981) Family analysis of Werner’s syndrome: a survey of 42 Japanese families with a review of the literature. Clin Genet 19: 8–15.
Goto M (1987) Werner’s syndrome. In: Gomez MR (ed.): Neurocutaneous diseases. A practical approach. Stoneham: Butterworths, pp. 241–246.
Goto M, Rubenstein M, Weber J, Woods K, Drayna D (1992) Genetic linkage to Werner’s syndrome to five markers on chromosome 8. Nature 355: 735–738.
Goto M (1997) Hierarchical deterioration of body systems in Werner’s implication for normal ageing. Mech Ageing Dev 98: 239–254.
Irwing GW, Ward PB (1953) Werner’s syndrome. With a report of two cases. Am J Med 15: 266–271.
Li B, Navarro S, Kasahara N, Comae L (2004) Identification and biochemical characterization of a Werner’s syndrome protein complex with ku 70/80 and poly (ADPribose polymerase-1). J Biol Chem 279: 13659–13667.
Oppenheimer BS, Kugel VH (1934) Werner’s syndrome-a heredofamilial disorder with scleroderma, bilateral cataract, precocious graying of hair, and endocrine stigmatisation. Trans Assoc Am Physicians 49: 358–370.
Oppenheimer BS, Kugel VH (1941) Werner’s syndrome: report of the first necropsy and of findings in a new case. Am J Med Sci 202: 629–642.
Piras D, Cottoni F, Cerimele D (2003) Prevalence of Werner’s syndrome in northern Sardinia: a new case. J Eur Acad Dermatol Venereal 17: 248–249.
Tannhauser SJ (1945) Werner’s syndrome (progeria of the adult) and Rothmund síndrome: two types of closely related heredofamilial atrophia dermatoses with juvenile cataracts and endocrine features: a critical study with five new cases. Ann Intern Med 23: 559–626.
Toriello HV (2006) Premature ageing syndromes. In: Harper J, Oranje A, Prose N (eds.) Textbook of Pediatric Dermatology. 2nd ed. Oxford: Blackwell Science, pp. 1538–1556.
Vigouroux C, Caux F, Capeau J, Christin-Maitre S, Cohen A (2003) LMNA mutations in atypical Werner’s syndrome. Lancet 362: 1585.
Werner CWO (1904) Über Kataract in Verbindung mit Skleroderme. Inaugural dissertation. Kiel. Schmidt und Klauning.
Yamamoto K, Imakiire A, Miyagawa N, Kasahara T (2003) A report of two cases of Werner’s syndrome and review of the literature. J Orthop Surg 11: 224–233.
Yokote K, Honjo S, Kobayashi K, Fujimoto M, Kawamura H, Mori S, Saito Y (2004) Metabolic improvement and abdominal fat redistribution in Werner syndrome by pioglitazone. J Am Geriatr Soc 52: 1582–1583.
Yu CE, Oshima J, Goddard KAB, Mili T, Nakura J, Ogihara T, Poot M, Hoehn H, Fraccaro M, Piussan C, et al. (1994) Linkage disequilibrium and haplotype studies of chromosome 8p11.1-21.1 markers and Werner syndrome. Am J Hum Genet 55: 356–364.
Yu CE, Oshima J, Fu YH, Wijsman EM, Hishama F, Alisch R, Matthews S, Nakura J, Miki T, Ouais S, Martin GM, Mulligan J, Schellenberg GD (1996) Positional cloning of the Werner’s syndrome gene. Science 272: 258–262.
References
Kaufmann S, Jones M, Culler FL, Jones KL (1986) Growth hormone deficiency in the Rothmund-Thomson syndrome. Am J Med Genet 23: 861–868.
Kerr B, Ashcroft GS, Scott D, Horan MA, Ferguson MVJ, Donnai D (1996) Rothmund-Thomson syndrome: two case reports show heterogeneous cutaneous abnormalities, an association with genetically programmed aging changes, and increased chromosomal radiosensitivity. J Med Genet 33: 928–934.
Kitao S, Shimamoto A, Goto M, Miller RW, Smithson WA, Lindor NM, Furuichi Y (1999) Mutations in RECQL4 cause a subset of cases of Rothmund-Thomson syndrome. Nat Genet 22: 82–84.
Lapunzina P, Fonseca E, Gracia R, Delicado A (1995) Rothmund-Thomson syndrome and Addison disease. Pediatr Dermatol 12: 164–169.
Lindor NM, Devries EMG, Michels VV, Schad CR, Jalal SM, Donovan KM, Smithson WA, Kvols LK, Thibodeau SN, Dewald GW (1996) Rothmund-Thomson syndrome in siblings: evidence for acquired in vivo mosaicism. Clin Genet 49: 124–129.
Lindor NM, Furmichi Y, Kitao S, Shimamoto A, Arndt C, Jalal S (2000) Rothmund-Thomson syndrome due to RECQ4 helicase mutations: report and clinical and molecular comparisons with Bloom syndrome and Werner syndrome. Am J Med Genet 90: 223–228.
Potozkin JR, Geronemus RG (1991) Treatment of the poikilodermatous component of the Rothmund-Thomson syndrome with the flash lamppumped pulsed dye laser: a case report. Pediatr Dermatol 8: 162–165.
Pujol LA, Erickson RP, Heidenreich RA, Cunniff C (2000) Variable presentation of Rothmund-Thomson syndrome. Am J Med Genet 95: 204–207.
Rothmund A (1868) Ueber cataracten in vervindung mit einer eigenthemlichen hautdegeneration. Albrecht von Graefes Arch Fur Ophth 14: 159–182.
Sharma RC, Mahajan V, Sharma NL, Sharma AK (2003) Kindler syndrome. Int J Dermatol 42: 727–732.
Shinya A, Nishigori C, Miriwaki S, Takebe H, Kubota M, Ogino A, Imamura S (1993) A case of Rothmund-Thomson syndrome with reduced DNA repair capacity. Arch Dermatol 129: 332–336.
Taylor WB (1957) Rothmund’s syndrome-Thomson’s syndrome. Arch Dermatol 75: 236–244.
Thomson MS (1923) An hitherto undescribed familial disease. Br J Dermatol Syphilis 35: 455–462.
Toriello HV (2006) Premature ageing syndromes. In: Harper J, Oranje A, Prose N (eds.) Textbook of Pediatric Dermatology. 2nd ed. Oxford: Blackwell Science, pp. 1538–1556.
Vennos EM, Collins M, James WD (1992) Rothmund-Thomson syndrome: review of the world literature. J Am Acad Dermatol 27: 750–762.
Vennos EM, Janes WD (1995) Rothmund-Thomson syndrome. Dermatol Clin 13: 143–150.
Wang LL, Levy ML, Lewis RA, Gannavarapu A, Stockton D, Lev D (2000) Evidence for heterogeneity in Rothmund-Thomson syndrome. Am J Hum Genet 67 (Suppl 2): 376.
Wang LL, Levy ML, Lewis RA, Chintagumpala MM, Lev D, Rogers M, Rogers M, Plon SE (2001) Clinical manifestations in cohort of 41 Rothmund-Thomson syndrome patients. Am J Med Genet 102: 11–17.
Wang LL, Worley K, Gannavarapu A, Chintagumpala MM, Levy M, Plon SE (2002) Intron-size constraint as a mutational mechanism in Rothmund-Thomson syndrome. Am J Hum Genet 71: 165–167.
References
Aslan D, Ozturk G, Kaya Z, Bideci A, Ozdogaan S, Ozdek S, Gursel T (2004) Early-onset in a girl with Bloom syndrome: probable clinical importance of an ocular manifestation. J Pediatr Hematol Oncol 26: 156–257.
Bloom D (1954) Congenital telangiectatic erythema resembling lupus erythematosus in dwarfs. Probably a syndrome entity. Am J Dis Child 88: 754–758.
Davis SL, North PS, Dart A, Lakin ND, Hickson ID (2004) Phosphorylation of the Bloom’s syndrome helicase and its role in recovery from S-phase arrest. Mol Cell Biol 24: 1279–1291.
Du X, Shen J, Kugan N, Furth EE, Lombard DB, Cheung C, Pak S, Luo G, Pignolo RJ, DePinho RA, Guarente L, Johnson FB (2004) Telomere shortening exposes function for the mouse Werner and Bloom syndrome genes. Mol Cell Biol 24: 8437–8446.
Ellis NA, Groden J, Ye TZ, Straughen J, Lennon DJ, Ciocci S, Proytcheva M, German J (1995) The Bloom’s syndrome gene product is homologous to RecQ elicases. Cell 83: 655–666.
German J (1995) Bloom syndrome. Dermatol Clin 13: 7–18.
German J, Passarge E (1989) Bloom’s syndrome XII. Report from the Registry for 1987. Clin Genet 35: 57–60.
Kaneko H, Kondo N (2004) Clinical features of Bloom syndrome and function of the causative gene, BLM helicase. Expert Rev Mol Diagn 4: 393–401.
Karow J, Chrakraverty R, Hickson I (1997) The Bloom’s syndrome gene product is 3_-5_ DNA Helicase. J Biolo Chem 272: 39611–39614.
Keller C, Keller KR, Shew SB, Plon SE (1999) Growth deficiency and malnutrition in Bloom syndrome. J Pediatr 134: 472–479.
Kitao S, Shimamoto A, Goto M, Miller RW, Smithson WA, Lindor MN, Furuichi Y (1999) Mutations in RECQ4 helicase as the cause of a subset of cases of Rothmund-Thomson syndrome. Nat Genet 22: 82–84.
Lindor NM, Furnichi Y, Kitao S, Shimamoto A, Arndt C, Jalal S (2000) Rothmund-Thomson syndrome due to RECQ4 helicase mutations: report and clinical and molecular comparisons with Bloom syndrome and Werner syndrome. Am J Med Genet 90: 223–228.
Mitra M, Ye TZ, Smith A, Chuai S, Kirchohoff T, Peterlongo P, Nafa K, Phillips MS, Offit K, Ellis NA (2004) Localization of cancer susceptibility genes by genome-wide single-nucleotide polymorphism linkage-disequilibrium mapping. Cancer Res 64: 8116–8125.
Yu CE, Oshima J, Fu YM, Wijsman EM, Isama F, Alisch R, Matthews S, Nakura J, Miki T, Ouais S, Martin GM, Mulligan J, Schellenberg GD (1996) Positional cloning of Werner’s syndrome gene. Science 272: 258–262.
References
Bécane HM, Bonne G, Varnous S, Muchir A, Ortega V, Hammouda EH, Urtizberea JA, Lavergne T, Fardeau M, Eymard B, Weber S, Schwartz K, Duboc D (2000) High incidence of sudden death of conduction system and myocardial disease due to lamins A/C gene mutation. Pacing Clin Electrophysiol 23: 1661–1666.
Bonne G, Raffaele di Barletta M, Varnous S, Bécane HM, Hammaouda EH, Merlini L, Muntoni F, Greenberg CR, Gary F, Urtizberea JA, Duboc D, Fardeau M, Toniolo D, Schwartz K (1999) Mutations in the gene encoding lamin A/C causes autosomal dominant Emery-Dreiffuss muscular dystrophy. Nat Genet 21: 285–288.
Cao H, Hegele RA (2000) Nuclear lamin A/C R482Q mutation in Canadian Kindreds with Dunnigan-type familial partial lipodystrophy. Hum Mol Genet 9: 109–112.
Cavallazzi C, Cremoncini R, Quadri A (1960) A case of cleidocranial dysostosis. Riv Clin Pediatr 65: 313–326.
Cohen LK, Thurmon TF, Salvaggio J (1973) Werner’s syndrome. Cutis 12: 76–80.
De Sandre-Giovannoli A, Chaouch M, Kozlov S, Vallat JM, Tazir M, Kassouri M, Szepetowski P, Hammadouche T, Vandenberghe A, Stewart CL, Grid D, Levy N (2002) Homozygous defects in LMNA encoding lamin A/C nuclear envelope proteins, cause autosomal recessive axonal neuropathy in human (Charcot-Marie-Tooth disorder type 2) and mouse. Am J Hum Genet 70: 726–736.
Fatkin D, McRae C, Sasaki T, Wolff MR, Porou M, Frenneaux M, Atherton J, Vidaillet HJ Jr, Spudich S, De Girolami U, Seidman JG, Seidman C, Muntoni F, Muehle G, Johnson W, McDonough B (1999) Missense mutations in the rod domain of the lamin A/C gene as causes of dilated cardiomyopathy and conduction-system disease. N Engl J Med 431: 1715–1724.
Freidenberg GR, Cutler DL, Jones MC, Hall B, Mier RJ, Culler F, Jones KL, Lozzio C, Kaufmann S (1992) Severe insulin resistance and diabetes mellitus in mandibuloacral dysplasia. Am J Dis Child 146: 93–99.
Levi L, Bellani G, Vergani C, D’Alonso R, Fiorelli G (1970) L’acrogeria di Gottron. Descrizione di un caso. G Ital Dermatol 105: 645–651.
Lin F, Worman HJ (1993) Structural organization of the human gene encoding nuclear lamin A and nuclear lamin C. J Biol Chem 268: 16321–16326.
Muchir A, Bonne G, van der Koci AJ, van Meegen M, Baas F, Bolhuis PA (2000) Identification of mutations in the gene encoding lamins A/C in autosomal dominant limbgirdle muscular dystrophy with atrioventricular conduction disturbances (LGMD1B). Hum Mol Genet 9: 1453–1459.
Novelli G, Muchir A, Sangiuolo F, Helbling-Leclerc A, D’Apice MR, Massart C, Capon F, Sbraccia P, Federici M, Lauro R, Tudisco C, Pallotta R, Scarano G, Dallapiccola B, Merlini L, Bonne G (2002) Mandibuloacral dysplasia is caused by mutation in LMNA-encoding lamin A/C. Am J Hum Genet 71: 426–431.
Pallota R, Morgese G (1984) Mandibuloacral dysplasia: a rare progeroid syndrome. Two brothers confirm autosomal recessive inheritance. Clin Genet 26: 133–138.
Raffaele di Barletta M, Ricci E, Galluzzi G, Tonali P, Mora M, Morandi L, Romorini A, Voit T, Orstavik KH, Merlini L, Trevisan C, Biancalana V, Housmanowa-Petrusewicz I, Bione S, Ricotti R, Schwartz K, Bonne G, Toniolo D (2000) Different mutations in the LMNA gene cause autosomal dominant and autosomal recessive Emery-Dreiffuss muscular dystrophy. Am J Hum Genet 66: 1407–1412.
Seftel MD, Wright CA, Wan Po PL, de Ravel TJL (1996) Lethal neonatal mandibuloacral dysplasia. Am J Med Genet 66: 52–54.
Shackleton S, Lloyd DJ, Jackson SN, Evans R, Niermeijer MF, Singh BM, Schmidt H, Brabant G, Kumar S, Durrington PN, Gregory S, O’Rahilly S, Trembath RC (2000) LMNA, encoding lamin A/C, is mutated in partial lipodystrophy. Nat Genet 24: 153–156.
Shrander-Stumpel C, Spaepen A, Fryns JP, Dumon J (1992) A severe case of mandibuloacral dysplasia in a girl. Am J Med Genet 43: 877–881.
Tenconi R, Miotti F, Miotti A, Audino G, Ferro R, Clementi M (1986) Another Italian family with mandibuloacral dysplasia: why does it seen more frequent in Italy? Am J Med Genet 24: 357–364.
Tudisco C, Canepa G, Novelli G, Dallapiccola B (2000) Familial mandibuloacral dysplasia: report of an additional Italian patient. Am J Med Genet 94: 237–241.
Young LW, Radebaugh JF, Rubin P, Sensenbrenner JA, Fiorelli G (1971) New syndrome manifested by mandibular hypoplasia, acroosteolysis, stiff joints and cutaneous atrophy (mandibuloacral dysplasia) in two unrelated boys. Birth Defects Orig Artic Ser 7: 291–297.
Zina AM, Cravario A, Bundino S (1981) Familial mandibuloacral dysplasia. Brit J Dermatol 105: 719–723.
References
Berardinelli W (1954) Undiagnosed endocrinometabolic syndrome: report of two cases. J Clin Endocrinol 14: 193–204.
Ebihara K, Kusakabe T, Masuzaki H, Kobayashi N, Tanaka T, Chusho H, Miyanaga F, Miyazawa T, Hayashi T, Hosoda K, Ogawa Y, Nakao K (2004) Gene and phenotype analysis of congenital generalized lipodystrophy in Japanese: a novel homozygous nonsense mutation in seipin gene. J Clin Endocrinol Metab 89: 2360–2364.
Garg A, Wilson R, Barnes R, Arioglu E, Zaidi Z, Gurakan F, Kocak N, O’Rahilly S, Taylor SI, Patel SB, Bowcock AM (1999) A gene for congenital generalized lipodystrophy maps to human chromosome 9q34. J Clin Endocrinol Metab 84: 3390–3394.
Gomes KB, Fernandes AP, Ferreira ACS (2004) Mutations in the Seipin gene and AGPAT2 genes clustering in consanguineous families with Berardinelli-Seip congenital lipodystrophy from two separate geographical regions of Brazil. J Clin Endocrinol Metab 89: 357–361.
Magre J, Delepine M, Khallouf E, Gedde-Dahl T, van Maldergem L, Sobel E, Papp J, Meier M, Megarbane A, Bachy A, Verloes A, d’Abronzo FH, Seemanova E, Assan R, Baudic N, Bourut C, Czernichow P, Huet F, Grigorescu F, de Kerdanet M, Lacombe D, Labrune P, Lanza M, Loret H, Matsuda F, Navarro J, Nivelon-Chevalier A, Polak M, Robert JJ, Tric P, Tubiana-Rufi N, Vigouroux C, Weissenbach J, Savasta S, Maassen JA, Trygstad O, Bogalho P, Freitas P, Medina JL, Bonnicci F, Joffe BI, Loyson G, Panz VR, Raal FJ, O’Rahilly S, Stephenson T, Kahn CR, Lathrop M, Capeau J; BSCL Working Group (2001) Identification of the gene altered in Berardinelli-Seip congenital lipodystrophy on chromosome 11q13. Nat Genet 28: 365–370.
Oral EA, Simha V, Ruiz E, Andewelt A, Premkumar A, Snell P, Wagner AJ, DePaoli AM, Reitman ML, Taylor SI, Gorden P, Garg A (2002) Leptin-replacement therapy for lipodystrophy. N Engl J Med 346: 570–578.
Rajab A, Heathcote K, Joshi S, Jeffery S, Patton M (2002) Heterogeneity for congenital generalized lipodystrophy in seventeen patients from Oman. Am J Ned Genet 110: 219–225.
Raygada M, Rennert O (2005) Congenital generalized lipodystrophy: profile of the disease and gender differences in two siblings. Clin Genet 67: 98–101.
Seip M (1959) Lipodystrophy and gigantism with associated endocrine manifestation: a new diencephalic syndrome? Acta Paediatr Scand 48: 555–574.
Shackleton S, Lloyd D, Jackson SNJ, Evans R, Niermeijer MF, Singh BM, Schmidt H, Brabant G, Kumar S, Durrington PN, Gregory S, O’Rahilly S, Trembath RC (2000) LMNA, encoding lamin A/C, is mutated in partial lipodystrophy. Nat Genet 24: 153–156.
Van Maldergem L, Magre J, Khallouf TE (2002) Genotypephenotype correlations in Berardinelli-Seip congenital lipodystrophy. J Med Genet 39: 722–733.
References
Aubry M (1893) Variété singulière d’alopécie congénitale: alopécie suturales. Ann Dermatol Syphil (Paris) 4: 899–900.
Barrucand D, Benradi C, Schmitt J (1978) Syndrome de François. A propos de deux cas. Rev Oto-Neuro-Ophthal 50: 305.
Berbich A, Benradi F, Sekkat A (1977) Syndrome de François. Arch Ophthalmol (Paris) 37: 723–730.
Christian CL, Lachman RS, Ayhsworth AS, Fujimoto A, Gorlin RJ, Lipson MH, Graham JM Jr (1991) Radio logical findings in Hallermann-Streiff syndrome: report of five cases and a review of the literature. Am J Med Genet 41: 508–514.
Cohen MM Jr (1991) Hallermann-Streiff syndrome: a review. Am J Med Genet 41: 488–499.
Crevits L, Thiery E, Van der Eechem H (1977) Oculomandibular dyscephaly (Hallermann-Streiff-François syndrome) associated with epilepsy. J Neurol 215: 225–230.
Defraia E, Marinelli A, Alarashi M (2003) Case report: orofacial characteristics of Hallermann-Streiff syndrome. Eur J Pediatr Dent 4: 155–158.
Dennis NR, Fairhurst J, Moore IE (1995) Lethal syndrome of slender bones, intrauterine fractures, characteristic facial appearance, and cataracts, resembling Hallermann-Streiff syndrome in two sibs. Am J Med Genet 59: 517–520.
Dinwiddie R, Gewitz M, Taylor JFX (1978) Cardiac defects in the Hallermann-Streiff syndrome. J Pediatr 92: 77.
François MJ (1958) A new syndrome: dyscephalia with bird face and dental anomalies, nanism, hypotrichosis, cutaneous atrophy, microphthalmia and congenital cataract. Arch Ophthalmol 60: 842–862.
François MJ (1982) François dyscephalic syndrome. Birth Defects 18: 595–619.
Hallermann W (1948) Vogelgesicht und Cataracta congenital. Klin Monatsbl Augenheilkd 113: 315–318.
Harrod MJ, Friedman JM (1991) Congenital cataracts in mother, sister, and of a patient with Hallermann-Streiff syndrome: coincidence or clue? Am J Med Genet 41: 500–502.
Hou JW (2003) Hallermann-Streiff syndrome associated with small cerebellum, endocrinopathy and increased chromosomal breakage. Acta Pediatr 92: 869–871.
Judge C, Chakanovskis JE (1971) The Hallermann-Streiff syndrome. J Ment Defic Res 15: 115–120.
Limeres J, Abeleira M, Tomas I, Feijoo JF, Vilaboa C, Diz P (2004) An atypical Hallermann-Streiff syndrome. Fo cus on dental care and differential diagnosis. Quintessence Int 35: 49–55.
Lohmann W (1920) Beitrag zur Kenntnis des reinen Mikrophthalmus. Arch Augenheilk 86: 136–141.
Mirshekari A, Safar F (2004) Hallermann-Streiff syndrome: a case review. Clin Exp Dermatol 29: 477–479.
Patton MA, Laurence KM (1985) Three new cases of oculodentodigital (ODD) syndrome: development of the facial phenotype. J Med Genet 22: 386–389.
Pivnick EK, Burstein S, Wilroy RS, Kaufman RA, Ward JC (1991) Hallermann-Streiff-syndrome with hypopituitarism contributing to growth failure. Am J Med Genet 41: 503–507.
Pizzuti A, Flex E, Minfarelli R, Salpietro C, Zelante L, Dallapiccola B (2004) A homozygous GJA1 gene mutation causes a Hallermann-Streiff (ODDD) spectrum phenotype. Hum Mutat 23: 286.
Robinow M (1991) Respiratory obstruction and cor pulmonale in the Hallermann-Streiff syndrome. Am J Med Genet 41: 515–516.
Salpietro D, Briuglia S, Merlino V, Piraino B, Valenzise M, Dallapiccola B (2004) Hallermann-Streiff syndrome: patient with decreased GH and insulin-like growth factor-1. Am J Med Genet 125: 216–218.
Sclaroff A, Appley BL (1987) Evaluation and surgical correction of the facial skeletal deformity in Hallermann-Streiff syndrome. Int J Oral Maxilofac Surg 16: 738–744.
Slootweg PJ, Huber J (1984) Dentoalveolar abnormalities in oculomandibulo-dyscephaly (Hallermann-Streiff syndrome) J Oral Pathol 13: 147–154.
Spaepen A, Schrander-Stumpel C, Fryns JP, De Die-Smulders C, Borghgraef M, Van den Berghe H (1991) Hallermann-Streiff syndrome: clinical and psychological findings in children. Nosologic overlap with oculodentodigital dysplasia? Am J Med Genet 41: 417–420.
Streiff EB (1950) Dysmorphie mandibulo-faciale (tête d’oiseau) et alteration oculaires. Ophthalmologica 120: 79–83.
Author information
Authors and Affiliations
Editor information
Editors and Affiliations
Rights and permissions
Copyright information
© 2008 Springer-Verlag/Wien
About this chapter
Cite this chapter
Pascual-Castroviejo, I., Ruggieri, M. (2008). Progeria and Progeroid Syndromes (Premature Ageing Disorders). In: Ruggieri, M., Pascual-Castroviejo, I., Di Rocco, C. (eds) Neurocutaneous Disorders Phakomatoses and Hamartoneoplastic Syndromes. Springer, Vienna. https://doi.org/10.1007/978-3-211-69500-5_54
Download citation
DOI: https://doi.org/10.1007/978-3-211-69500-5_54
Publisher Name: Springer, Vienna
Print ISBN: 978-3-211-21396-4
Online ISBN: 978-3-211-69500-5
eBook Packages: MedicineMedicine (R0)