Microcephaly, distinctive facies, single atrium, postaxial polydactyly, skeletal defects and mental retardation: a new familial faciocardiomelic syndrome?

Clin Dysmorphol. 2007 Jan;16(1):15-20. doi: 10.1097/01.mcd.0000198929.24577.a5.

Abstract

Three siblings with postaxial polydactyly type A, congenital heart defect (single atrium), mental retardation, microcephaly, a distinctive facial appearance, skeletal anomalies and neonatal macrosomy were studied. Comparison with other cardiomelic syndromes previously described in the literature lead us to conclude that this is a new faciocardiomelic syndrome probably inherited as an autosomal recessive trait.

Publication types

  • Case Reports

MeSH terms

  • Abnormalities, Multiple / genetics*
  • Abnormalities, Multiple / pathology*
  • Adolescent
  • Child
  • Craniofacial Dysostosis / genetics
  • Craniofacial Dysostosis / pathology
  • Female
  • Genes, Recessive*
  • Heart Atria / pathology
  • Heart Defects, Congenital / genetics
  • Heart Defects, Congenital / pathology
  • Humans
  • Intellectual Disability / genetics
  • Intellectual Disability / pathology
  • Limb Deformities, Congenital / genetics
  • Limb Deformities, Congenital / pathology
  • Male
  • Microcephaly / genetics
  • Microcephaly / pathology
  • Pedigree
  • Quantitative Trait Loci*
  • Syndrome