Waardenburg Shah syndrome: A rare case from India
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...
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Background Robinow syndrome is a rare congenital disorder with phenotypically heterogeneous abnormalities. Two modes of inheritances are known for this syndrome namely autosomal recessive and autosomal dominant. Case Report We describe here an eighteen-month-old child who had mesomelic short stature, abnormal facial features, clinodactyly, micropenis and vertebral changes which were further sup...
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ژورنال
عنوان ژورنال: Oman Journal of Ophthalmology
سال: 2015
ISSN: 0974-620X
DOI: 10.4103/0974-620x.149899