Bart syndrome with associated anomalies.
Bart syndrome is an inherited condition characterized by epidermolysis bullosa and congenital absence of skin. It has been associated with other anomalies including pyloric atresia. The genetic abnormality has been linked to chromosome 3, with an autosomal dominant pattern of inheritance. We present a case of Bart syndrome that was associated with pyloric atresia. The literature is reviewed pertaining to this unusual association. Recommendations are offered regarding genetic counseling and anticipatory guidance for affected families.
Bart
Bruce J
BJ
Department of Dermatology, Hennepin County Medical Center, Minneapolis, Minnesota 55415, USA.
Lussky
Richard C
RC
D000015:Abnormalities, Multiple; D004820:Epidermolysis Bullosa / Q000473:pathology; D006801:Humans; D007231:Infant, Newborn; D008297:Male; D011708:Pylorus / Q000002:abnormalities*; D012868:Skin Abnormalities / Q000473:pathology; D013577:Syndrome