Familial aplasia cutis congenita and coarctation of the aorta.
We report on the association of aplasia cutis congenita (ACC) in the midline of the scalp vertex and coarctation of the aorta (CA) in mother and son. The acronym of ACCCA syndrome is proposed for this condition. Autosomal dominant inheritance is most commonly implicated in the familial cases of ACC. The familial aggregation of CA is attributed, in general, to a multi-factorial causation, with a few reported families suggesting autosomal dominant inheritance. The ACCCA syndrome could be due to a Mendelian mutation.
Dallapiccola
B
B
Division of Medical Genetics, Bambino Gesu' Children's Hospital, Tor Vergata University, Rome, Italy.
Giannotti
A
A
Marino
B
B
Digilio
C
C
Obregon
G
G
D000328:Adult; D001017:Aortic Coarctation / Q000150:complications* / Q000235:genetics*; D002675:Child, Preschool; D004476:Ectodermal Dysplasia / Q000235:genetics*; D005260:Female; D006801:Humans; D008297:Male; D012535:Scalp / Q000002:abnormalities*