Shah-Waardenburg Syndrome: A Spectrum of Aganglionosis
نویسندگان
چکیده
منابع مشابه
Shah-Waardenburg Syndrome
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 lit...
متن کاملNovel mutations of SOX10 suggest a dominant negative role in Waardenburg-Shah syndrome.
EDITOR—Waardenburg syndrome (OMIM 193500) is a rare disorder (1 in 40 000 live births) characterised by distinctive facial features, pigmentary disturbance (white forelock, heterochromia iridis, white eyelashes, leucoderma), and cochlear deafness. WaardenburgShah syndrome combines the features of Waardenburg syndrome and Hirschsprung’s disease (also called Waardenburg-Hirschsprung disease, Waar...
متن کاملWaardenburg syndrome
Waardenburg syndrome was first reported by van der Hoeve in 1916. In 1951, Waardenburg defined 6 main features: (1) dystopia canthorum, (2) prominent broad nasal root, (3) synophrys, (4) white forelock, (5) heterochromia iridis, and (6) congenital deaf-mutism. Four types of Waardenburg syndrome have now been delineated on the basis of clinical and genetic criteria. The molecular defective gene ...
متن کاملWaardenburg 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 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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ژورنال
عنوان ژورنال: Journal of Pediatrics & Neonatal Care
سال: 2016
ISSN: 2373-4426
DOI: 10.15406/jpnc.2016.04.00158