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Neuropediatrics 1989; 20(3): 139-141
DOI: 10.1055/s-2008-1071279
Original article

© Georg Thieme Verlag KG Stuttgart · New York

Autosomal Recessive Microcephaly, Mental Retardation with Nonpigmentary Retinopathy and a Distinctive Electroretinogram

M. G. Harbord1 , S. R. Lambert1 , A.  Kriss1 , E. M. Brett1 , M.  Baraitser1 , G.  Supramaniam2
  • 1The Hospital for Sick Children, Great Ormond Street, London
  • 2Watford General Hospital, Vicarage Road, Watford, England
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Publikationsdatum:
19. März 2008 (online)

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Abstract

The association of microcephaly and mental retardation with a non-pigmentary retinopathy is described in three siblings of consanguineous parents. The electroretinogram showed the distinctive appearance of markedly attenuated "b" wave but normal "a" wave suggestive of a retinal dystrophy primarily affecting post-receptoral elements in the inner retina. This appears to be an autosomal recessive condition which has not been previously reported.

Key words

Microcephaly - Mental retardation - Non-pigmentary retinopathy - Electroretinogram