Familial aplasia cutis congenita and coarctation of the aorta

B. Dallapiccola, A. Giannotti, B. Marino, C. Digilio, G. Obregon

Research output: Contribution to journalArticle

Abstract

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.

Original languageEnglish
Pages (from-to)762-763
Number of pages2
JournalAmerican Journal of Medical Genetics
Volume43
Issue number4
DOIs
Publication statusPublished - 1992

    Fingerprint

Keywords

  • ACCCA syndrome
  • aplasia cutis congenita
  • autosomal dominant inheritance
  • coarctation of the aorta

ASJC Scopus subject areas

  • Genetics(clinical)

Cite this