| Answer to PhotoQuiz 54 |
| Schmid-type metaphyseal chondrodysplasia (OMIM #156500) |
| Schmid-type metaphyseal chondrodysplasia (SMCD) is an autosomal dominant skeletal dysplasia, characterized by short stature that usually develops by around two years of age, short limbs, genu varum deformity, and a waddling gait. The radiographic features include metaphyseal changes at the ends of the long bones including splaying, flaring, and cupping; shortening of the tubular bones; and anterior cuppingand splaying of the ribs. Platyspondyly and vertebral end-plate irregularities are less commonly seen with SCMD. It is caused by heterozygous variants in the COL10A1 gene (OMIM*120110). |
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| Correct responses were given by: |
| 1. Dr Aradhana Dwivedi, Army Hospital Research &
Referral, New Delhi 2. Dr Mallikarjun R Patil, Bangalore 3. Dr Vinu N, Centre for Human Genetics, Bangalore |