| Contributed by: Lakshmi Priya, Anju Shukla Department of Medical Genetics, Kasturba Medical College, Manipal |
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| Email: anju.shukla@manipal.edu | ||
| This 11 years old girl presented with facial dysmorphism, mild intellectual disability, and behavioral abnormalities including attention deficit disorder and disinhibition. Identify the condition. | ||
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| Answer to PhotoQuiz 40 |
| Fibrodysplasia Ossificans Progressiva (OMIM # 135100) |
| Fibrodysplasia ossificans progressiva is a rare disorder characterized by progressive ectopic ossification of skeletal muscles, tendons, fascia and ligaments. Affected individuals also have short, usually monophalangic, great toes with hallux valgus deformity. Soft tissue injury can trigger the occurrence of new swellings; therefore biopsy, intramuscular injections and rigorous physiotherapy are contraindicated in affected individuals. It is an autosomal dominant disorder caused by mutation in the ACVR1 gene and majority of the cases occur due to a de novo mutation. |
| Correct responses were given by: |
| 1. Suvarna Magar, Aurangabad |
| 2. Poonam Singh Gambhir, Kanpur |
| 3. Kanika Singh, New Delhi |
| 4. Jayarekha Raja, Chennai |
| 5. Alka Ekbote, Aurangabad |
| 6. Divya Agarwal, Gurgaon |
| 7. Sarah Bailur, Hyderabad |
| 8. Beena Suresh, Chennai |
| 9. Mohandas Nair, Calicut |
| 10. Ravi Goyal, Kota |
| 11. Ravneet Kaur, New Delhi |