title: Hand involvement in Schmid metaphyseal chondrodysplasia.
abstract: Schmid metaphyseal chondrodysplasia (Schmid MCD, MIM 156500) is caused by mutations in the COL10A1 gene and is clinically characterized by short stature, bowed legs, and a waddling gait. Radiographic findings include anterior cupping, sclerosis and splaying of the ribs, diffuse metaphyseal flaring, and irregularity that is most pronounced at the knees, coxa vara, and femoral bowing. We reviewed the radiographs of Schmid MCD patients at the International Skeletal Dysplasia Registry in Los Angeles for evidence of hand involvement. We found hand involvement in 47% (7/15) of cases included in our analysis. These changes were subtle and consisted of shortening of the tubular bones and metaphyseal cupping of the proximal phalanges and metacarpals. Mild hand involvement is a common feature of Schmid MCD.
authors.affiliation: International Skeletal Dysplasia Registry, Cedars-Sinai Medical Center, Los Angeles, CA, USA. amelliot@mts.net
authors.forename: Alison M
authors.initials: AM
authors.lastname: Elliott
authors.forename: Fiona M
authors.initials: FM
authors.lastname: Field
authors.forename: David L
authors.initials: DL
authors.lastname: Rimoin
authors.forename: Ralph S
authors.initials: RS
authors.lastname: Lachman
mesh_terms: D024121:Collagen Type X / Q000235:genetics; D005260:Female; D005385:Fingers / Q000002:abnormalities / Q000000981:diagnostic imaging; D006225:Hand / Q000000981:diagnostic imaging; D006228:Hand Deformities, Congenital / Q000000981:diagnostic imaging*; D006801:Humans; D015141:Los Angeles; D008297:Male; D020125:Mutation, Missense; D010009:Osteochondrodysplasias / Q000235:genetics / Q000473:pathology*; D011859:Radiography; D012042:Registries / Q000706:statistics & numerical data
chemical_list: D024121:Collagen Type X