TY - JOUR
T1 - Familial aplasia cutis congenita and coarctation of the aorta
AU - Dallapiccola, B.
AU - Giannotti, A.
AU - Marino, B.
AU - Digilio, C.
AU - Obregon, G.
PY - 1992
Y1 - 1992
N2 - 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.
AB - 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.
KW - ACCCA syndrome
KW - aplasia cutis congenita
KW - autosomal dominant inheritance
KW - coarctation of the aorta
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U2 - 10.1002/ajmg.1320430423
DO - 10.1002/ajmg.1320430423
M3 - Article
C2 - 1621771
AN - SCOPUS:0026652431
VL - 43
SP - 762
EP - 763
JO - American Journal of Medical Genetics, Part A
JF - American Journal of Medical Genetics, Part A
SN - 1552-4825
IS - 4
ER -