Caino S, Dello Ruso B, Fano V, Obregón M G
Servicio de Crecimiento y Desarrollo, Hospital de Pediatría Juan P. Garrahan, Buenos Aires, Argentina.
An Pediatr (Barc). 2012 Jun;76(6):355-9. doi: 10.1016/j.anpedi.2011.12.004. Epub 2012 Feb 9.
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.
跗腕骨联合综合征(TCC,OMIM编号#186570)是一种常染色体显性疾病,其特征为腕骨、跗骨和指骨融合,第一掌骨短小导致短指畸形以及肱桡骨融合。许多家族中都报道过NOG基因突变。我们描述了一个在骨骼发育异常诊所就诊的跗腕骨融合家族,并探讨了鉴别诊断方法。