Waardenburg syndrome: A rare genetic disorder, a report of two cases
2012; Medknow; Volume: 18; Issue: 2 Linguagem: Inglês
10.4103/0971-6866.100804
ISSN0971-6866
Autores Tópico(s)melanin and skin pigmentation
ResumoWaardenburg 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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