| Answer to PhotoQuiz 36 |
| Campomelic dysplasia (OMIM # 114290) |
| Campomelic dysplasia is an autosomal dominant skeletal dysplasia characterized by congenital
shortness and bowing of long bones, especially in the lower extremities, as well as hypoplastic
scapulae, narrow iliac wings and non-mineralized thoracic pedicles. The other features include
distinctive facies, cleft palate, laryngotracheomalacia and sex reversal in individuals with 46,XY
chromosomal constitution. The condition is often lethal due to respiratory insufficiency. Mutations
in SOX9 gene are known to cause campomelic dysplasia. |
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| Correct responses were given by: |
| 1. Beena Suresh, Chennai |
| 2. Prashant Kumar Verma, Jaipur |
| 3. Ashish Gupta, New Delhi |
| 4. Alka Ekbote, Aurangabad |
| 5. Shraddha Mular, Vellore |