Hypertrichosis, coarse face, brachydactyly, obesity and mental retardation

Clinical Dysmorphology

Volumn 5, Issue 3, 1996, Pages 223-229

  Pavone, L ^a   Rizzo, R ^a   Ruggieri, M ^a   Sorge, G ^a  

^a UNIVERSITY OF CATANIA   (Italy)

Author keywords

brachydactyly; coarse face; hypertrichosis terminals; mental retardation; nail anomalies; short stature

Indexed keywords

ADOLESCENT; ARTICLE; BRACHYDACTYLY; CASE REPORT; COARSE FACE; ENDOCRINE DISEASE; GINGIVA HYPERPLASIA; HIRSUTISM; HUMAN; HYPERTRICHOSIS; MALE; MENTAL RETARDATION MALFORMATION SYNDROME; NAIL HYPOPLASIA; OBESITY; PHALANX; PRIORITY JOURNAL; VIRILIZATION;

EID: 0029792269     PISSN: 09628827     EISSN: None     Source Type: Journal    
DOI: 10.1097/00019605-199607000-00006     Document Type: Article

References (26)

1. Behrman RE (1992): Disorders of the adrenal glands. In Behrman RE (ed.): "Textbook of Pediatrics," 14th edition. Philadelphia: W.B. Saunders Company; pp. 1438-1454.
2. Beighton P (1970): Congenital hypertrichosis lanuginosa. Arch Dermatol 101: 669-672.
3. Bondeson J, Miles AEW (1993): Julia Pastrana, the nondescript: an example of congenital, generalized hypertrichosis terminalis with gingival hyperplasia. Am J Med Genet 47: 198-212.
4. Coffin GS, Siris E (1970): Mental retardation with absent fifth fingernail and terminal phalanx. Am J Dis Child 119: 433-439.
5. Felgenhauer WR (1969): Hypertrichosis lanuginosa universalis. J Genet Hum 17: 1-44.
6. Fitch N (1980): The syndromes of Marshall and Weaver. J Med Genet 17: 174-178.
7. Fitch N (1982): Albright's hereditary osteodystrophy: a review. Am J Med Genet 11: 11-29.
8. Gorlin RJ (1990): Gorlin-Chaudry-Moss syndrome. In Buyse ML (ed.): "Birth Defects Encyclopedia," 1st edition. Cambridge, Massachusetts: Blackwell Scientific Publications; p. 808.
9. Gould GM, Pyle WL (1937): "Anomalies and Curiosities of Medicine". New York: Sydenham; pp. 98-105.
10. Hanson JW, Buehler BA (1982): Fetal-hydantoin syndrome: current status. J Pediatr 101: 916-918.
11. Jackson L, Kline AD, Bar MA, Koch S (1993): De Lange syndrome: a clinical review of 310 individuals. Am J Med Genet 47: 940-946.
12. Martsolf JT, Hunter AGW, Haworth JC (1978): Severe mental retardation, cataracts, short stature, and primary hypogonadism in two brothers. Am J Med Genet 1: 291-299.
13. Mulvihill JJ (1986): Fetal Alcohol syndrome. In: Sever JL, Brebt RL (eds): "Teratogen Update: Environmentally Induced Birth Defect Risks". New York: Alan R Liss; pp. 13-18.
14. Patton MA, Hurst J, Donnai D, McEown CME, Cole T, Goodship J (1991): Syndrome of the month: "Floating-Harbor syndrome". J Med Genet 28: 201-204.
15. Parreidt J (1886): Über die Bezahnung bei Menschen mit abnormer Behaarung. Deutsche Monatsschr Zahnheilkd 4: 41-54.
16. Petty EM, Laxova R, Wiedemann HR (1990): Previously unrecognized congenital progeroid disorder. Am J Med Genet 35: 383-387.
17. Ravin JG, Hodge GP (1969): Hypertrichosis portrayed in art. JAMA 207: 533-535.
18. Ray AK (1966): Hypertrichosis with simian characteristics. J Med Genet 3: 156.
19. Rushton MA (1957): Hereditary or idiopathic hyperplasia of the gums. Dental Practioner 7: 136-146.
20. Schinzel A, Giedion A (1978): A syndrome of severe midface retraction, multiple skull anomalies, clubfeet, and cardiac and renal malformations in sibs. Am J Med Genet 1: 361-375.
21. Snyder CH (1965): Syndrome of gingival hyperplasia, hirsutism, and convulsions. J Pediatr 67: 499-502.
22. Vontobel F (1973): Idiopathic gingival hyperplasia and hypertrichosis associated with acromegaloid features. Helv Pediatr Acta 28: 401-409.
23. Wiedemann HR, Oldigs HD, Oppermann HC, Oster O (1993): Hirsutism-skeletal dysplasia-mental retardation syndrome with abnormal face and uric acid metabolism disorder. Am J Med Genet 46: 403-409.
24. Winter RM, Baraitser M (1994): "London Dysmorphology Database". Oxford: Oxford University Press.
25. Winter GB, Simpkiss MJ (1974): Hypertrichosis with hereditary gingival hyperplasia. Arch Dis Child 49: 394-399.
26. Witkop CJ (1971): Heterogeneity in gingival fibromatosis. Birth Defects 7(7): 210-22.