Association of Shah-Waardenburgh syndrome: a review of 6 cases.
Shah-Waardenburg syndrome (SWS) is a neurocristopathy and is characterized by Hirschsprung's disease (HD), deafness, and depigmentation of hairs, skin, and iris.


OBJECTIVE
The aim of the article is to study the relative frequency of associations in 6 consecutive cases of SWS.


METHODS
A review of 6 consecutive patients with SWS was performed to study the frequency of various components of the syndrome.


RESULTS
Six patients had features of SWS. All patients had HD; of these, 3 had rectosigmoid HD, whereas 3 had extended HD. All patients had white forelock of hairs with skin depigmentation. One patient had sensorineural deafness, whereas other babies were less than 1 year, and thus, full evaluation of hearing deficiency was not assessed. Three patients had blue eyes, whereas other babies had normal iris pigmentation. Skin depigmentation was noted in 5 of the 6 patients. Three babies were seriously malnourished and showed higher association of enterocolitis.


CONCLUSIONS
Shah-Waardenburg syndrome is an uncommon association of HD. Depigmentation with a white forelock and skin manifestations are common, whereas blue iris, long segment disease, and enterocolitis are present in nearly half of the patients.
Jan
Iftikhar A
IA
Pakistan Institute of Medial Sciences, Islamabad 44000, Pakistan. iftikarjan@gmail.com
Stroedter
Lutz
L
Haq
Anwaar-ul
AU
Din
Zaheer-ud
ZU
D002648:Child; D004760:Enterocolitis; D017809:Fatal Outcome; D005260:Female; D006319:Hearing Loss, Sensorineural; D006627:Hirschsprung Disease / Q000175:diagnosis* / Q000628:therapy; D006801:Humans; D017496:Hypopigmentation; D007228:Infant Nutrition Disorders; D007231:Infant, Newborn; D008297:Male; D035583:Rare Diseases; D014849:Waardenburg Syndrome / Q000175:diagnosis* / Q000628:therapy