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 des...

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Published inAnales de pediatría (Barcelona, Spain : 2003) Vol. 76; no. 6; pp. 355 - 359
Main Authors Caino, S, Dello Ruso, B, Fano, V, Obregón, M G
Format Journal Article
LanguageSpanish
Published Spain 01.06.2012
Subjects
Adult
Carpal Bones - abnormalities
Child
Female
Foot Deformities, Congenital - diagnosis
Foot Deformities, Congenital - genetics
Hand Deformities, Congenital - diagnosis
Hand Deformities, Congenital - genetics
Humans
Pedigree
Phenotype
Stapes - abnormalities
Synostosis - diagnosis
Synostosis - genetics
Tarsal Bones - abnormalities
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Summary: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.
Bibliography:ObjectType-Article-2
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ISSN:1695-9531
DOI:10.1016/j.anpedi.2011.12.004