Contributed by: Dr Prajnya Ranganath
Department of Medical Genetics, Nizam's Institute of Medical Sciences, Hyderabad		  
  Email: prajnyaranganath@gmail.com  
  This fetus was referred for autopsy evaluation in view of antenatal ultrasound findings of bilateral short humeri. This was the second pregnancy of a third degree consanguineous couple. The fetus in the first pregnancy of the couple was also similarly affected. Identify the condition.  
 

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Answer to PhotoQuiz 45
The radiographs show cortical hyperostosis of the tibia with irregularity of the bony cortex. These findings are typical of Caffey disease (OMIM # 114000). Caffey disease is caused by heterozygous mutation in the alpha-1 collagen type I gene (COL1A1) on chromosome 17q21.
 
Correct responses were given by:
1. Dr M L Kulkarni, Davangere
2. Dr J P Soni, Jodhpur
3. Dr Chakshu Chaudhry, Chandigarh
4. Dr Meenakshi Lallar, Panchkula
5. Dr Ravneet, New Delhi
6. Dr Komal Uppal, Nalgonda
7. Dr Parag Tamhankar, Mumbai
8. Dr Deepa Bhat, Mysuru
9. Dr Meenakshi Bhat, Bangalore
10. Dr Suvajit Das, Rampurhat, West Bengal
11. Dr Anirbaan Palit, Midnapore
12. Dr Vibha Jain, New Delhi
13. Dr. Ashka Prajapati, Ahmedabad
14. Dr Nishant Rathod, Mumbai