Congenital X-linked cataract, dental anomalies and brachymetacarpalia.
An investigation of a family with congenital X-linked cataracts, microcorneas, supernumerary incisors, anteverted pinnae and shortened metacarpals is presented. The carriers had posterior sutural opacities and cone-shaped teeth. There have been four previously reported families with X-linked cataracts, one of which also presented microcorneas. Four other families have been reported with X-linked cataracts, microphthalmia and somatic and mental anomalies. Linkage studies could be used to demonstrate whether these diseases result from allelic or nonallelic genes but were uniformative in the present family.
D002386:Cataract / Q000151:congenital* / Q000235:genetics; D004431:Ear, External / Q000002:abnormalities; D005260:Female; D006801:Humans; D007180:Incisor / Q000002:abnormalities; D008297:Male; D008663:Metacarpus / Q000002:abnormalities*; D010375:Pedigree; D012729:Sex Chromosome Aberrations; D014071:Tooth Abnormalities / Q000235:genetics*