Focal dermal hypoplasia in a father and daughter.
Focal dermal hypoplasia (FDH) is most often seen in females who have severe mesenchymal defects as well as distinctive cutaneous abnormalities. We describe a 45-year-old man with mild FDH limited entirely to the skin, who was never correctly diagnosed until he fathered a female infant with severe multisystem FDH.
D002675:Child, Preschool; D003241:Consanguinity; D005260:Female; D005799:Genes, Dominant; D006801:Humans; D008297:Male; D008875:Middle Aged; D012867:Skin / Q000473:pathology; D012868:Skin Abnormalities; D014960:X Chromosome