Femoral hypoplasia-unusual facies syndrome in a black African infant

Genet Couns. 2011;22(4):365-70.

Abstract

The femoral hypoplasia-unusual facies syndrome is a very rare association of femora and facial abnormalities. The most common features include hypoplasia of the femora and a characteristic facies with a short nose, long philtrum, thin upper lip and micrognathia. Maternal diabetes mellitus has been mainly identified as the causal agent. We reported the first case in a black African and discuss prenatal diagnosis and aetiology.

Publication types

  • Case Reports

MeSH terms

  • Benin
  • Black People / genetics*
  • Female
  • Femur / abnormalities
  • Humans
  • Infant, Newborn
  • Infant, Premature, Diseases / diagnosis
  • Infant, Premature, Diseases / genetics
  • Phenotype
  • Pierre Robin Syndrome / genetics*

Supplementary concepts

  • Femoral facial syndrome