Answer to PhotoQuiz 37 |
Berardinelli-Seip Syndrome or Congenital Generalized Lipodystrophy
(OMIM # 608594, 269700, 612526, 613327) |
Berardinelli- Seip syndrome or Congenital Generalized Lipodystrophy is characterized by the
absence of functional adipocytes leading to generalized lipodystrophy, insulin resistance and
increased risk of diabetes mellitus, hepatic steatosis, skeletal muscle hypertrophy and hypertrophic
cardiomyopathy. It has an autosomal recessive pattern of inheritance and can be caused by biallelic
mutations in the AGPAT2, BSCL2, CAV1 or PTRF gene. |
|
Correct responses were given by: |
1. Kanika Singh, New Delhi |
2. Sheetal Sharda, Surat |
3. Jagadish Bhat, Goa |
4. Ravneet Kaur, New Delhi |
5. Sameer Bhatia, Dehra Dun |
6. Sreelata Nair, Adoor, Kerala |
7. Prashant Kumar Verma, Jaipur |
8. Beena Suresh, Chennai |
9. Sangeeta, New Delhi |
10. Parag Mohan Tamhankar, Mumbai |
11. M L Kulkarni, Davangere |
12. Alka Ekbote, Aurangabad |