Contributed by: Dr. Ratna D Puri | ||
Email: ratnadpuri@yahoo.com | ||
A 6 years old boy presented with short stature and history of recurrent fractures. On examination he had dysmorphic facial features with delayed closure of fontanels. Photograph of the hands and radiographs of the skull, left hand and chest are shown below. Identify the condition. |
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Answer to PhotoQuiz 29 |
Multicentric Osteolysis, Nodulosis and Arthropathy (MONA) (OMIM # 259600) |
Multicentric Osteolysis, Nodulosis and Arthropathy (MONA) is an autosomal recessive disorder characterized by generalized osteopenia, thinning of cortices of the long bones, flexion contractures of large joints of the limbs, severe osteolysis and resorption of the carpal and tarsal bones, and subcutaneous nodules. It was also referred to as the Torg- Winchester syndrome. It is caused by homozygous or compound heterozygous mutations in the Matrix Metalloproteinase 2 (MMP2) gene. |
Correct responses were given by: |
1. Jagadish Bhat, Goa |
2. Kalpana Gowrishankar, Chennai |
3. Prashanth Verma, Jaipur |
4. Deepti Saxena, Lucknow |
5. Jayaprakash KP, Kottayam |
6. Atanu Kumar Dutta, Vellore |
7. Leena Shingavi, Pune |