Spondylocarpotarsal synostosis with ocular findings.
We report on three sibs presenting with spondylocarpotarsal synostosis, short-trunk dwarfism of postnatal onset, scoliosis, unsegmented thoracic vertebrae with unilateral bar, and carpal bone fusion. Tarsal bone fusion and dental abnormalities were noted in some of them, indicating pleiotropy and intrafamilial variability. Lens opacities, rarefaction of retinal pigmentation, and narrowing of retinal vessels, detected in two patients, are findings that have not been described to date in this condition.
Steiner
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CE
Departamento de Genética Médica, Faculdade de Ciências Médicas, Universidade Estadual de Campinas (UNICAMP), Campinas, SP, Brazil. steiner@unicamp.br
Torriani
M
M
Norato
D Y
DY
Marques-de-Faria
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AP
D000015:Abnormalities, Multiple / Q000175:diagnosis; D000293:Adolescent; D000328:Adult; D002348:Carpal Bones / Q000002:abnormalities* / Q000000981:diagnostic imaging; D002871:Chromosome Banding; D004392:Dwarfism / Q000175:diagnosis; D005124:Eye Abnormalities / Q000175:diagnosis*; D005192:Family Health; D005260:Female; D006801:Humans; D008297:Male; D010375:Pedigree; D011859:Radiography; D013131:Spine / Q000002:abnormalities* / Q000000981:diagnostic imaging; D013580:Synostosis / Q000175:diagnosis*; D013639:Tarsal Bones / Q000002:abnormalities* / Q000000981:diagnostic imaging