Amelia, cleft lip, and holoprosencephaly: a distinct entity.

ABSTRACT

We report on a male fetus with amelia, cleft lip, and holoprosencephaly. We compare the clinical findings in our patient with those of previously reported cases with the most clinical overlap. To date only four cases with bilateral limb amelia, CNS anomalies, and facial clefts have been described. Our report appears to represent the fifth case with such a combination of anomalies.