Contributed by: Dr. Prajnya Ranganath Department of Medical Genetics, Nizam's Institute of Medical Sciences, Hyderabad |
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Email: prajnyaranganath@gmail.com | ||
This 2.5 years-old female child, the fourth offspring of non-consanguineous parents, presented with history of painful, hard swellings on the back. Her developmental milestones were normal. There was no significant family history. Identify the condition. | ||
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Answer to PhotoQuiz 39 |
Freeman-Sheldon syndrome (Distal arthrogryposis type 2A)(OMIM # 193700) |
Freeman-Sheldon syndrome is a distal arthrogryposis syndrome characterized by contractures of hands and feet (arthrogryposis), oropharyngeal abnormalities, and a distinctive face which includes a very small oral orifice, puckered lips, and an H-shaped dimpled chin. Hence it is also called the 'whistling face syndrome'. It is an autosomal dominant disorder caused by mutation in the MYH3 gene. |
Correct responses were given by: |
1. Beena Suresh, Chennai |
2. Manjeet Mehta, Mumbai |
3. Kalpana Gowrishankar, Chennai |
4. Sheetal Sharda, Bengaluru |
5. Sangeeta Khatter, New Delhi |
6. Mohandas Nair, Kozhikode |
7. Poonam Singh Gambhir, Kanpur |
8. Alka Ekbote, Aurangabad |
9. Prashant Kumar Verma, Jaipur |
10. M L Kulkarni, Davangere |
11. Jayarekha Raja, Chennai |
12. Niby J Elackatt, Bengaluru |