Waardenburg syndrome.
Indian J Dermatol Venereol Leprol
;
2006 Jul-Aug; 72(4): 326
Artículo
en Inglés
| IMSEAR
| ID: sea-52449
ABSTRACT
Waardenburg syndrome is a rare inherited and genetically heterogenous disorder of neural crest cell development. Four distinct subtypes showing marked interfamilial and intrafamilial variability have been described. We report a girl showing constellation of congenital hearing impairment with 110 dB and 105 dB loss in right and left ear respectively, hypoplastic blue iridis, white forelock, dystopia canthorum and broad nasal root. Other affected relatives of the family, with variable features of the syndrome, have been depicted in the pedigree.
Texto completo:
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Índice:
IMSEAR (Asia Sudoriental)
Asunto principal:
Linaje
/
Síndrome de Waardenburg
/
Femenino
/
Humanos
/
Niño
/
Sordera
Idioma:
Inglés
Revista:
Indian J Dermatol Venereol Leprol
Año:
2006
Tipo del documento:
Artículo
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