Hand involvement in Schmid metaphyseal chondrodysplasia
| Autor: | Fiona M. Field, Alison M. Elliott, Ralph S. Lachman, David L. Rimoin |
|---|---|
| Rok vydání: | 2004 |
| Předmět: |
musculoskeletal diseases
Male animal structures Coxa vara Mutation Missense Osteochondrodysplasias Short stature Fingers Genetics Medicine Humans Registries Genetics (clinical) Hand deformity Rib cage business.industry Anatomy Phalanx medicine.disease Hand Osteochondrodysplasia Los Angeles Schmid metaphyseal chondrodysplasia Radiography Femoral bowing Female medicine.symptom business Hand Deformities Congenital Collagen Type X |
| Zdroj: | American journal of medical genetics. Part A. (2) |
| ISSN: | 1552-4825 |
| Popis: | 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. |
| Databáze: | OpenAIRE |
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