Focal dermal hypoplasia.Cutis. 1994 Jun; 53(6):309-12.C
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.