Alopecia universalis congenita, XY gonadal dysgenesis and laryngomalacia: A novel malformation syndrome

European Journal of Pediatrics

Volumn 162, Issue 1, 2003, Pages 36-40

  El Shanti, Hatem ^a,b,c   Ahmad, Mojali ^d   Ajlouni, Kamel ^c  

^a Jordan Univ of Sci and Technology ^*  (Jordan)

^b JORDAN UNIVERSITY OF SCIENCE AND TECHNOLOGY   (Jordan)

^c National Center for Diabetes Endocrinology and Genetics Jordan   (Jordan)

^d KING HUSSEIN MEDICAL CENTER   (Jordan)

Author keywords

Alopecia universalis congenita; Gonadal dysgenesis; Laryngomalacia; Short stature

Indexed keywords

ALOPECIA; ALOPECIA UNIVERSALIS CONGENITA; ARTICLE; AUTOSOMAL RECESSIVE DISORDER; CHILD; CLINICAL ARTICLE; CLINICAL FEATURE; CONSANGUINEOUS MARRIAGE; FAMILIAL DISEASE; FAMILIAL INCIDENCE; FEMALE; GONADAL DYSGENESIS; HUMAN; INFANT; KARYOTYPE 46,XY; LARYNGOMALACIA; MALE; MALFORMATION SYNDROME; MUELLERIAN DUCT; PARENT; PRIORITY JOURNAL; SEX LIMITATION; CASE REPORT; GENETICS; LARYNX DISORDER; NEWBORN; PEDIGREE; RECESSIVE GENE; SYNDROME;

ALOPECIA; FEMALE; GENES, RECESSIVE; GONADAL DYSGENESIS, 46,XY; HUMANS; INFANT; INFANT, NEWBORN; LARYNGEAL DISEASES; MALE; PEDIGREE; SYNDROME;

EID: 0037215253     PISSN: 03406199     EISSN: None     Source Type: Journal    
DOI: 10.1007/s00431-002-1108-4     Document Type: Article

References (17)

1. Ahmad M, Abbas H, Haque S (1993) Alopecia universalis as a single abnormality in an inbred Pakistani kindred. Am J Med Genet 46:369-371
2. Ahmad W, Faiyaz ul Haque M, Brancolini V, Tsou HC, ul Haque S, Lam H, Aita VM, Owen J, deBlaquiere M, Frank J, Cserhalmi-Friedman PB, Leask A, McGrath JA, Peacocke M, Ahmad M, Ott J, Christiano AM (1998) Alopecia universalis associated with a mutation in the human hairless gene. Science 279:720-724
3. Berkovitz GD, Fechner PY, Zacur HW, Rock JA, Snyder HM 3rd, Migeon CJ, Perlman EJ (1991) Clinical and pathologic spectrum of 46,XY gonadal dysgenesis: Its relevance to the understanding of sex differentiation. Medicine (Baltimore) 70:375-383
4. Cantu JM, Sanchez-Corona J, Gonzalez-Mendoza A, Martinez-y-Marinez R, Garcia-Cruz D (1980) Autosomal recessive inheritance of atrichia congenita. Clin Genet 17:209-212
5. Conte FA, Grumbach MM, Kaplan SL (1975) A diphasic pattern of gonadotropin secretion in patients with the syndrome of gonadal dysgenesis. J Clin Endocrinol Metab 40:670-674
6. Damste TJ, Prakken JR (1954) Atrichia with papular lesions: Variant of congenital ectodermal dysplasia. Dermatologica 108:114-122
7. Feinstein A, Engelberg S, Goodman RM (1987) Genetic disorders associated with severe alopecia in children: A report of two unusual cases and a review. J Craniofac Genet Dev Biol 7:301-310
8. Hillmer AM, Kruse R, Betz RC, Schumacher J, Heyn U, Propping P, Nothen MM, Cichon S (2001) Variant 1859G-A (arg620 to gln) of the 'hairless' gene: Absence of association with papular atrichia or androgenetic alopecia. Am J Hum Genet 69:235-237
9. Loewenthal LJA, Prakken JR (1961) Atrichia with papular lesions. Dermatologica 122:85-89
10. Nothen MM, Cichon S, Vogt IR, Hemmer S, Kruse R, Knapp M, Holler T, Faiyaz ul Haque M, Haque S, Propping P, Ahmad M, Rietschel M (1998) A gene for universal congenital alopecia maps to chromosome 8p21-22. Am J Hum Genet 62:386-390
11. Nussbaum E, Maggi JC (1990) Laryngomalacia in children. Chest 98:942-944
12. Pinheiro M, Freire-Maia N (1985) Atrichia and hypotrichoses: A brief review with description of a recessive atrichia in two brothers. Hum Hered 35:53-55
13. Schmitt-Ney M, Thiele H, Kaltwasser P, Bardoni B, Cisternino M, Scherer G (1995) Two novel SRY missense mutations reducing DNA binding identified in XY females and their mosaic fathers. Am J Hum Genet 56:862-869
14. Sprecher E, Bergman R, Szargel R, Raz T, Labay V, Ramon M, Baruch-Gershoni R, Friedman-Birnbaum R, Cohen N (1998) Atrichia with papular lesions maps to 8p in the region containing the human hairless gene. Am J Med Genet 80:546-550
15. Sprecher E, Bergman R, Szargel R, Friedman-Birnbaum R, Cohen N (1999) Identification of a genetic defect in the hairless gene in atrichia with papular lesions: Evidence for phenotypic heterogeneity among inherited atrichias. Am J Hum Genet 64:1323-1329
16. Sprecher E, Lestringant GG, Szargel R, Bergman R, Labay V, Frossard PM, Friedman-Birnbaum R, Cohen N (1999) Atrichia with papular lesions resulting from a nonsense mutation within the human hairless gene. J Invest Dermatol 113:687-690
17. Tillman WG (1952) Alopecia congenita: report of two families. Br Med J 2:428