Neuropediatrics 1992; 23(1): 53-56
DOI: 10.1055/s-2008-1071313
Case report

© Georg Thieme Verlag KG Stuttgart · New York

Autosomal Recessive Microcephaly with Severe Psychomotor Retardation

I. E. Scheffer1 , M.  Baraitser2 , J.  Wilson1 , C.  Godfrey3 , E. M. Brett1
  • 1Department of Neurology, The Hospital for Sick Children, Great Ormond Street, London, U.K.
  • 2Department of Clinical Genetics, The Hospital for Sick Children, Great Ormond Street, London, U.K.
  • 3Department of General Paediatrics, North Middlesex Hospital, Edmonton, London, U.K.
Further Information

Publication History

Publication Date:
19 March 2008 (online)

Abstract

Autosomal recessive microcephaly has long been recognized in association with normal early motor development and mild to severe mental retardation. We report three sibling pairs with microcephaly and severe neurological impairment. These cases and other sibling pairs reported in the literature illustrate that microcephaly with spasticity and severe mental retardation may also have autosomal recessive inheritance. Furthermore this severely affected group of patients forms a significant proportion of cases of genetic microcephaly. We looked for specific morphological features to identify these forms of genetic microcephaly for genetic counselling, but failed to find characteristic abnormalities among our group of patients.

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