Association of Shah-Waardenburgh syndrome: a review of 6 cases

Journal of Pediatric Surgery
Iftikhar A JanZaheer-ud Din

Abstract

Shah-Waardenburg syndrome (SWS) is a neurocristopathy and is characterized by Hirschsprung's disease (HD), deafness, and depigmentation of hairs, skin, and iris. The aim of the article is to study the relative frequency of associations in 6 consecutive cases of SWS. A review of 6 consecutive patients with SWS was performed to study the frequency of various components of the syndrome. 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. 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.

References

Mar 1, 2006·European Journal of Paediatric Neurology : EJPN : Official Journal of the European Paediatric Neurology Society·Johanna B G M VerheijAnthonie J van Essen

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Citations

Apr 9, 2013·The Pan African Medical Journal·Abdelhalim MahmoudiBouabdallah Youssef
Dec 7, 2013·American Journal of Medical Genetics. Part a·Raquel M FernándezSalud Borrego
Jun 16, 2009·Journal of Pediatric Surgery·Irfan KaracaAliye Kandirici
Dec 19, 2018·Pediatric Dermatology·Mohammed D Saleem

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