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

作者：Jan Iftikhar A^*; Stroedter Lutz; Haq Anwaar ul; Din Zaheer ud

来源：Journal of Pediatric Surgery, 2008, 43(4): 744-747.

DOI：10.1016/j.jpedsurg.2007.11.023

• Hirschsprun's disease
• Shah-Waardenburg syndrome
• white forelock
• sensorineural deafness
• blue iris
• heterochromia

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 14D. All patients had white forelock of hairs with skin depigmentation. One patient had sensorineural deafness, whereas other babies were less than I 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.
Conclusion: 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.

• 出版日期2008-4
• 单位河北医科大学