[Tarsal-carpal coalition syndrome: a familial case].
Tarsal-carpal coalition syndrome (TCC, OMIM #186570) is an autosomal dominant disorder characterised by fusion of the carpals, tarsals, and phalanges, with the short first metacarpals causing brachydactyly and humeroradial fusion. Mutations in the NOG gene have been reported in many families. We describe a family with carpal tarsal fusion seen at a Skeletal Dysplasia Clinic and look at the differential diagnoses.
Servicio de Crecimiento y Desarrollo, Hospital de Pediatría Juan P. Garrahan, Buenos Aires, Argentina.
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D000328:Adult; D002348:Carpal Bones / Q000002:abnormalities; D002648:Child; D005260:Female; D005532:Foot Deformities, Congenital / Q000175:diagnosis / Q000235:genetics; D006228:Hand Deformities, Congenital / Q000175:diagnosis / Q000235:genetics; D006801:Humans; D010375:Pedigree; D010641:Phenotype; D013199:Stapes / Q000002:abnormalities; D013580:Synostosis / Q000175:diagnosis* / Q000235:genetics; D013639:Tarsal Bones / Q000002:abnormalities