X-linked mental retardation associated with bilateral clasp thumb anomaly.
We report on a family in which mental retardation is associated with a bilateral clasp-thumb anomaly (absent extensor pollicis brevis tendons). Males over 3 generations were documented to have this combination of findings and pedigree analysis strongly suggests X-linked inheritance. We are not aware of previous reports of X-linked mental retardation (XLMR) associated with this anomaly. There was no evidence of a fragile X in the 2 brothers who were studied for this abnormality.
D000015:Abnormalities, Multiple / Q000235:genetics*; D000293:Adolescent; D002648:Child; D003286:Contracture; D005260:Female; D006801:Humans; D008607:Intellectual Disability / Q000235:genetics*; D008297:Male; D010375:Pedigree; D013933:Thumb / Q000002:abnormalities*; D014960:X Chromosome