The Robinow (fetal face) syndrome: a continuing puzzle

The history of the Robinow (fetal face) syndrome and the evolution of the phenotype are presented. Non-specific and syndrome-specific abnormalities are listed, discussed and illustrated. Existence of an autosomal dominant and an autosomal recessive type has been well documented. The two forms can be distinguished phenotypically. Hypogenitalism, especially micropenis, is a constant feature in males, while females show only hypoplasia of clitoris and labia minora and are functionally normal. No biochemical or molecular anomaly has been identified.