Contributed by: Dr. Shagun Aggarwal  
  Email: shagun.genetics@gmail.com  
  This 13-months-old female child, born of non-consanguineous parents, presented with prenatal onset growth restriction, generalised skin rash of neonatal onset, right talipes deformity, finger joint abnormalities and abnormal skull shape. Identify the condition.  
 

Please send your responses to editor@iamg.in

  
  Click here to submit you answer  
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