Cleft lip/palate, abnormal ears, ectrodactyly, congenital heart defect, and growth retardation: definition of the acro-cardio-facial syndrome

Clin Dysmorphol. 2000 Oct;9(4):269-72. doi: 10.1097/00019605-200009040-00007.

Abstract

We report on a male patient with a constellation of malformations, including cleft lip/palate, abnormal ears, ectrodactyly, congenital heart defect (CHD), and growth retardation. A similar association has been previously reported twice [Richieri-Costa and Orquizas (1987) Rev Brasil Genet X:787-792; Giannotti et al. (1995) J Med Genet 32:72-74], and autosomal recessive inheritance was proposed.

Publication types

  • Case Reports
  • Review

MeSH terms

  • Abnormalities, Multiple / pathology*
  • Brain / abnormalities
  • Brain / diagnostic imaging
  • Cleft Lip / pathology
  • Cleft Palate / pathology
  • Developmental Disabilities / pathology
  • Ear / abnormalities
  • Face / abnormalities
  • Heart Defects, Congenital / pathology
  • Humans
  • Infant, Newborn
  • Male
  • Syndactyly / pathology
  • Syndrome
  • Tomography, X-Ray Computed