Autosomal recessive microcephaly, mental retardation with nonpigmentary retinopathy and a distinctive electroretinogram.
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.
Hospital for Sick Children, London, England.
M G
MG
Harbord
S R
SR
Lambert
A
A
Kriss
E M
EM
Brett
M
M
Baraitser
G
G
Supramaniam
D002648:Child; D002675:Child, Preschool; D004569:Electroencephalography; D005260:Female; D006801:Humans; D008607:Intellectual Disability / Q000150:complications* / Q000503:physiopathology; D008297:Male; D008831:Microcephaly / Q000150:complications* / Q000235:genetics / Q000503:physiopathology; D012164:Retinal Diseases / Q000150:complications* / Q000503:physiopathology; D013577:Syndrome