Анналы клинических и лабораторных исследований

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A Family with Autosomal Dominant Inheritance of Type 1 Waardenberg Syndrome

Fadhlullah Latama*, Habibah S. Muhiddin Budu, A. Muh. Ichsan, Marliyanti N. Akib, and Adelina T Poli

TIntroduction: Waardenberg syndrome is a rare condition characterised by heterochromia or bright blue irides, hypertelorism due to wider nasal bridge, sensory neural deafness and hypopigmentation of the skin and hair (poliosis). It is usually inherited in autosomal dominant pattern, however it can also be recessive Objective: To report clinical manifestations of type 1 Waardenberg Syndrome in a family of four generations. Case Presentation: Ten members of a family presented manifestations of Waardenberg Syndrome. Three of them had bright blue irides in both eyes, 4 had heterochromia. Two of the members with bright blue irides also had sensorineural hearing loss, poliosis accompanied by broad nasal bridge. Three others only showed hypertelorism and poliosis. All members of the family had normal visual acuity. There is no history of consanguineous marriage reported. Conclusion: The family in this case presumably inherited autosomal dominant of type 1 Waardenberg syndrome.