Shah-Waardenburg Syndrome
نویسندگان
چکیده
Shah-Waardenburg syndrome (SWS) is a neurocristopathy and is characterized by Hirschsprung's disease (HD), deafness, and depigmentation of hairs, skin, and iris. Is a very rare congenital disorder with variable clinical expression. This report describes a 4-day-old male newborn with Waardenburg's syndrome associated with aganglionosis of the colon and terminal ileum, and review the relevant literature for draws attention to the causal relationship between these two entities.
منابع مشابه
Waardenburg syndrome presenting with constipation since birth.
BACKGROUND Shah-Waardenburg syndrome is Waardenburg syndrome associated with Hirschsprung's disease. CASE CHARACTERISTICS A 10-day-old full-term male neonate of Waardenburg syndrome presented with constipation since birth along with features of small bowel obstruction. OBSERVATION Exploratory laparotomy revealed distended proximal jejunal and ileal loops along with microcolon; an ileostomy ...
متن کاملZebrafish colourless encodes sox10 and specifies non-ectomesenchymal neural crest fates.
Waardenburg-Shah syndrome combines the reduced enteric nervous system characteristic of Hirschsprung's disease with reduced pigment cell number, although the cell biological basis of the disease is unclear. We have analysed a zebrafish Waardenburg-Shah syndrome model. We show that the colourless gene encodes a sox10 homologue, identify sox10 lesions in mutant alleles and rescue the mutant pheno...
متن کاملWaardenburg Syndrome in an Arab Family
By Laman Amin -ZaKI (Baghdad), The Journal of Laryngology and Otology, 1971.
متن کاملA novel mutation in the endothelin B receptor gene in a moroccan family with shah-waardenburg syndrome.
Waardenburg syndrome (WS) is a neurocristopathy disorder combining sensorineural deafness and pigmentary abnormalities. The presence of additional signs defines the 4 subtypes. WS type IV, also called Shah-Waardenburg syndrome (SWS), is characterized by the association with congenital aganglionic megacolon (Hirschsprung disease). To date, 3 causative genes have been related to this congenital d...
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