Autosomal recessive severe congenital microcephaly: antenatal ultrasonographic diagnosis and head growth from 15 to 24 weeks of gestation

A severely microcephalic, quadiplegic child without extracranial anomalies was born to a young non-consanguineous couple, and antenatal ultrasonographic diagnosis of autosomal recessive microcephaly is feasible.

Abstract

A severely microcephalic, quadiplegic child without extracranial anomalies was born to a young non-consanguineous couple. Ultrasonographic examination at 15 weeks of the second pregnancy revealed a biparietal diameter that corresponded to 13 weeks, although the other measurements were in accordance with 15 weeks' gestation. Further examination at 20 and 24 weeks revealed progressive microcephaly. The aborted fetus (at 24 weeks' gestation) was grossly microcephalic, but lacked further abnormal findings. Antenatal ultrasonographic diagnosis of autosomal recessive microcephaly is feasible, at least in a proportion of cases.