| Answer to PhotoQuiz 30 |
| Pycnodysostosis (OMIM # 265800) |
| Pycnodysostosis is an autosomal recessive disorder characterized by short stature,
osteosclerosis, acroosteolysis of the distal phalanges and increased bone fragility with
predisposition to fractures. Typical craniofacial features of this condition include large
skull with wormian bones, delayed closure of the anterior fontanelle, a small mandible
and delayed eruption of primary and secondary dentition. It is caused by homozygous or
compound heterozygous mutations in the CTSK (cathepsin K) gene. |
| |
| Correct responses were given by: |
| 1. Jagadish Bhat, Goa |
| 2. Diksha Shirodkar, Goa |
| 3. Leena Shingavi, Pune |
| 4. Poonam Singh Gambhir, Lucknow |
| 5. Kalpana Gowrishankar, Chennai |
| 6. Deepti Saxena, Lucknow |
| 7. J.K. Dissanayake, Peradeniya, Sri Lanka |
| 8. Atanu Kumar Dutta, Kolkata |
| 9. Ravi Goyal, Kota, Rajasthan |
| 10. Ashish Gupta, New Delhi |