[Regular dominance of thumb ankylosis with mental retardation transmitted over 3 generations].
A young girl 12 old, sent to us for obesity, and coxa-epiphysiolysis showed signs of mental retardation and bilateral thumb ankylosis. The fact that the mother was also affected by both of these signs, led to a more detailed genetic research. The latter revealed that not only the daughter, the mother, but also their own mother and may be, the sister, the grand-mother and the great-aunt of the patient had a retardation, a slight dysmorphia, a type A brachydactylia, signs of obesity and an identical ankylosis of both thumbs. This vertical inheritance, affecting apparently females only, but not associated with a high rate of miscarriage, has, it seems, never been reported. The characteristics of this family are being considered and discussed.
D000328:Adult; D000844:Ankylosis / Q000235:genetics* / Q000473:pathology; D002648:Child; D005260:Female; D005799:Genes, Dominant; D006801:Humans; D008607:Intellectual Disability / Q000235:genetics* / Q000473:pathology; D007621:Karyotyping; D010375:Pedigree; D013933:Thumb / Q000002:abnormalities*
Dominance régulière d'une ankylose des pouces avec retard mental se transmettant sur trois générations.