Autosomal recessive microcephaly with severe psychomotor retardation.
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.
Scheffer
I E
IE
Department of Neurology, Hospital for Sick Children, London, U.K.
Baraitser
M
M
Wilson
J
J
Godfrey
C
C
Brett
E M
EM
D000293:Adolescent; D000328:Adult; D001284:Atrophy; D001921:Brain / Q000473:pathology; D002675:Child, Preschool; D002869:Chromosome Aberrations / Q000235:genetics*; D025063:Chromosome Disorders; D003241:Consanguinity; D004200:Diseases in Twins / Q000235:genetics*; D005260:Female; D005808:Genes, Recessive / Q000235:genetics*; D005817:Genetic Counseling; D006801:Humans; D007223:Infant; D008607:Intellectual Disability / Q000235:genetics*; D008297:Male; D008831:Microcephaly / Q000235:genetics*; D009460:Neurologic Examination