Artigo Acesso aberto Revisado por pares

Waardenburg syndrome: A rare genetic disorder, a report of two cases

2012; Medknow; Volume: 18; Issue: 2 Linguagem: Inglês

10.4103/0971-6866.100804

ISSN

0971-6866

Autores

Kiran Rao, Sudesh Kumar,

Tópico(s)

melanin and skin pigmentation

Resumo

Waardenburg syndrome (WS) is a rare genetic disorder. Patients have heterochromia or eyes with iris of different color, increased inter-canthal distance, distopia canthorum, pigmentation anomalies, and varying degree of deafness. It usually follows autosomal dominant pattern. In this report, two cases have been discussed but no familial history of WS has been found. Counseling of the patient is necessary and cases of irreversible deafness have been treated.

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