Cataracts, motor system disorder, short stature, learning difficulties, and skeletal abnormalities: a new syndrome?
We present a 4-generation family in which affected individuals have cataracts, a motor neuronopathy with upper motor neuron signs, short stature, developmental delay, and skeletal abnormalities. An additional symptom is weakness during pregnancy which resolves after delivery. The condition is inherited in an autosomal dominant manner. The manifestations and inheritance are not found in any previously described conditions. We consider that this is a new syndrome.
Slavotinek
A M
AM
Department of Clinical Genetics, Oxford Radcliffe Hospital, United Kingdom.
Pike
M
M
Mills
K
K
Hurst
J A
JA
D000015:Abnormalities, Multiple / Q000235:genetics*; D000293:Adolescent; D000328:Adult; D002386:Cataract / Q000235:genetics; D002648:Child; D002675:Child, Preschool; D004392:Dwarfism / Q000235:genetics; D005260:Female; D005500:Follow-Up Studies; D005799:Genes, Dominant; D006801:Humans; D007859:Learning Disabilities / Q000235:genetics; D008297:Male; D008875:Middle Aged; D010375:Pedigree; D011596:Psychomotor Disorders; D013577:Syndrome