Holoprosencephaly With Fetal Akinesia/hypokinesia Sequence

Morse et al. (1987) reported the prenatal diagnosis of a characteristic abnormality in 2 fetuses with congenital contractures, markedly decreased fetal movement, and microcephaly due to severe holoprosencephaly. The knees were in extension. Both were male; the parents were normal and not related. The disorder resembled the Neu-Laxova syndrome (256520) in intrauterine growth retardation, multiple joint contractures, severe microcephaly, and recurrence in families. However, the lack of hyperkeratosis or ichthyosis and the resulting characteristic facial appearance, the lack of distal extremity swelling, and the presence of holoprosencephaly distinguished the disorder from the Neu-Laxova syndrome. The validity of the syndrome and the probable X-linked recessive inheritance suggested by Morse et al. (1987) were indicated by the report of Hockey et al. (1988): single cases in each of 3 sibships connected through females were affected with what appeared to be precisely the same disorder.