A new observation of acro-cardio-facial syndrome substantiates interindividual clinical variability

Research output: Contribution to journalArticlepeer-review

Abstract

We report on a baby presenting with ectrodactyly, heart defects, and mild facial dysmorphisms, an association recognized as acro-cardio-facial syndrome (ACFS). Based on the first three observations, the acronym CCGE, cleft palate, cardiac defect, genital anomalies, and ectrodactyly had been proposed to embrace the most consistent features of this syndrome. A subsequent report and the present patient point to an obvious interindividual and intrafamilial variability of this autosomal recessive disorder in which ectrodactyly was the sole characteristic shared by all affected individuals.

Original languageEnglish
Pages (from-to)84-86
Number of pages3
JournalAmerican Journal of Medical Genetics
Volume136 A
Issue number1
DOIs
Publication statusPublished - Jul 1 2005

Keywords

  • Acro-cardio-facial syndrome
  • Autosomal recessive inheritance
  • CCGE syndrome
  • Congenital heart defect
  • Ectrodactyly

ASJC Scopus subject areas

  • Genetics(clinical)

Fingerprint

Dive into the research topics of 'A new observation of acro-cardio-facial syndrome substantiates interindividual clinical variability'. Together they form a unique fingerprint.

Cite this