Hypertrichosis, pigmentary retinopathy, and facial anomalies: A new syndrome?

American Journal of Medical Genetics

Volumn 62, Issue 4, 1996, Pages 386-390

  Pivnick, E K ^a   Wilroy, R S ^a   Martens, P R ^a   Teather, T C ^b   Hashimoto, K ^c  

^a UNIVERSITY OF TENNESSEE HEALTH SCIENCE CENTER   (United States)

^b Brevard Eye Center   (United States)

^c WAYNE STATE UNIVERSITY SCHOOL OF MEDICINE   (United States)

Author keywords

congenital hypertrichosis; facial dysmorphia; pigmentary retinopathy

Indexed keywords

ARTICLE; BIRTH DEFECT; CASE REPORT; CHILD; CLINICAL EXAMINATION; CONGENITAL MALFORMATION; FACE MALFORMATION; HUMAN; HYPERPIGMENTATION; HYPERTRICHOSIS; MALE; NEGRO; PRIORITY JOURNAL; RETINOPATHY;

ABNORMALITIES, MULTIPLE; ADULT; FACE; FEMALE; GROWTH DISORDERS; HUMANS; HYPERTRICHOSIS; INFANT; MALE; RETINITIS PIGMENTOSA; SYNDROME;

EID: 0029872993     PISSN: 01487299     EISSN: None     Source Type: Journal    
DOI: 10.1002/(SICI)1096-8628(19960424)62:4<386::AID-AJMG11>3.0.CO;2-K     Document Type: Article

References (20)

1. Aldrovandus U (1642): "Monstorum historia" (ed). Bononiae typis Nicolai Tebaldini, p 17.
2. Benardinelli W (1954): An undiagnosed endocrine-metabolic syndrome. J Clin Endocrinol Metab 14:193-264.
3. Bondeson J, Miles AEW (1993): Julia Pastrana, the nondescript: An example of congenital, generalized hypertrichosis terminalis with gingival hyperplasia. Am J Med Genet 47:108-212.
4. Cantú JM, García-Cruz D, Sánchez-Corona J, Hernández A, Nazará Z (1982): A distinct osteochondrodysplasia with hypertrichosis-individualization of a probable autosomal recessive entity. Hum Genet 60:36-41.
5. Chang TS, McFarlane DC, Oliver G, Willis NR (1993): Congenital trichomegaly, pigmentary degeneration of the retina and growth retardation (Oliver-McFarlane Syndrome): 28 year follow-up of the first reported case. Am J Ophthalmol 28:191-193.
6. David A, Gordeeff A, Badoual J, Delaire J (1991): Macrostomia, ectropion, atrophic skin, hypertrichosis: Another observation. Am J Med Genet 39:112-115.
7. Figuera EL, Pandolfo M, Dunne PW, Cantú JM, Patel PI (1995): Mapping of the congenital generalized hypertrichosis locus to chromosome Xq24→q27.1. Nature Genet 10:202-207.
8. Freire-Maia N, Felizali J, de Figueiredo AC, Opitz JM, Parreira M, Mai NA (1976): Hypertrichosis lanuginosa in a mother and son. Clin Genet 10:303-306.
9. Happle R (1985): Lyonization and the lines of Blaschko. Hum Genet 70:200-206.
10. Hashimoto K, Mehregan AH, Kumakiri M (1987): Hair Follicule Tumors in "Tumors of Skin Appendages." Boston: Butterworths, p 125.
11. Jalili IK (1989): Cone-rod congenital amaurosis associated with congenital hypertrichosis: An autosomal recessive condition. J Med Genet 26:504-520.
12. Judge JR, Khaw PT, Rice NSC, Christopher A, Holmstrom G, Harper JI (1991): Congenital hypertrichosis lanuginosa and congenital glaucoma. Br J Dermatol 124:495-497.
13. Macías-Flores MA, García-Cruz D, Rivera H, Escobar-Luján M, Melendrez-Vega A, Rivas-Campos D, Rodriguea-Col F, Moreno-Arellano I, Cantú JM (1984): A new form of hypertrichosis inherited as an X-linked dominant trait. Hum Genet 66:66-70.
14. Moss C, Larkins S, Stacey M (1993): Epidermal mosaicism and Blaschko lines. J Med Genet 30:752-755.
15. Porter PS (1971): The genetics of human hair growth. New York: Alan R. Liss, Inc., for the National Foundation - March of Dimes. BD OAS VII (8):69-83.
16. Ray AK (1966): Hypertrichosis terminalis with simian characteristics. J Med Genet 3:156.
17. Storer JS, Hawk RJ (1988): "Neonatal skin and skin disorders. In Schachner LA, Hansen RC (eds): "Pediatric Dermatology." New York: Churchill Livingston, Inc., p 278.
18. Suskind R, Esterly N (1971): Congenital hypertrichosis universalis. New York: Alan R. Liss, Inc., for the National Foundation-March of Dimes. BD OAS VII (8):103-106.
19. Temtamy SA, Sinbawy AHH (1991): Cataract, hypertrichosis and mental retardation (CAHMR): A new autosomal recessive syndrome. Am J Med Genet 41:432-433.
20. Zvulunov A, Rotem A, Merlob P (1990): Congenital smooth muscle hamartoma. Am J Dis Child 144:782-784.