Dallapiccola B, Giannotti A, Marino B, Digilio C, Obregon G
Division of Medical Genetics, Bambino Gesu' Children's Hospital, Tor Vergata University, Rome, Italy.
Am J Med Genet. 1992 Jul 1;43(4):762-3. doi: 10.1002/ajmg.1320430423.
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.
我们报告了一对母子头皮顶点中线先天性皮肤发育不全（ACC）与主动脉缩窄（CA）的关联。为此病症提出了ACCCA综合征这一缩写词。常染色体显性遗传最常与ACC的家族病例相关。一般而言，CA的家族聚集归因于多因素病因，少数报道的家族提示常染色体显性遗传。ACCCA综合征可能是由于孟德尔突变所致。
