Article Text

Download PDFPDF

Autosomal recessive severe congenital microcephaly: antenatal ultrasonographic diagnosis and head growth from 15 to 24 weeks of gestation
  1. A Schinzel*,
  2. M Litschgi
  1. *The Institute of Medical Genetics, University of Zürich, Switzerland.
  2. The Department of Obstetrics and Gynecology, Kantonsspital Schaffhausen, Switzerland.


    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.

    Statistics from

    Request Permissions

    If you wish to reuse any or all of this article please use the link below which will take you to the Copyright Clearance Center’s RightsLink service. You will be able to get a quick price and instant permission to reuse the content in many different ways.