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Published on: August 4, 2016
Focal dermal hypoplasia
R R Sule1, D J Dhumawat, M B Gharpuray
1Department of Dermatology, Sassoon General Hospital, Pune, India.
Abstract:
Focal dermal hypoplasia is a rare developmental disorder affecting skin, eyes, teeth, and musculoskeletal system. Focal dermal hypoplasia is transmitted as an X-linked dominant disorder but rare male cases occur due to half chromatid mutations. We report on a male child with focal dermal hypoplasia with skin and eye defects. Association of porencephalic cyst in the brain is also reported.
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