Femoral hypoplasia-unusual facies syndrome in a black African infant.

Genet Couns

Service de Pédiatrie, Hôpital de la Mère et de l'Enfant Lagune de Cotonou, Bénin.

Published: March 2012

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.

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