Contributed by: Dr Haseena Sait
Department of Medical Genetics, Sanjay Gandhi Postgraduate Institute of Medical Sciences, Lucknow, India
 
  Email: hasi.flower@gmail.com  
  This 5-year-old female child born to non-consanguineous parents presented with complaints of bony swellings over the right forearm and right leg noted from 2 years of age. There is no history of pain. Examination revealed limb asymmetry. Skeletal radiographs are attached. Identify the condition.  
  Please send your responses to editor@iamg.in  
  Click here to submit your answer  
 
Answer to PhotoQuiz 61
Iniencephaly
Iniencephaly is a rare type of neural tube defect (NTD) which involves a combination of occipital bone defect and partial or total absence (rachischisis) of the cervicothoracic vertebrae resulting in fixed and extreme retroflexion of the head. In most cases, it is perinatally lethal. The exact underlying etiology is not identified in majority of affected fetuses.
 
Correct responses were given by:
1. Dr Surya G Krishnan, Centre for Human Genetics, Bengaluru
2. Dr Vibha Jain, Anuvanshiki- The Genetic Clinic, Ghaziabad
3. Dr Sakshi, Faith Diagnostic and Fetal Centre, Chandigarh
4. Dr Sreelata Nair, Lifeline Super Specialty Hospital, Adoor, Pathanamthitta, Kerala
5. Dr Pallavi Sinha, Sir Ganga Ram Hospital, New Delhi
6. Dr Ranjana Mishra, Maulana Azad Medical College, New Delhi
7. Dr Nishant Rathod, Neuroworld Clinic, Rajkot
8. Dr Mallikarjun Patil, Aster Hospital, Bengaluru
9. Dr Meenakshi Lallar, Consultant Geneticist, Chandigarh
10. Dr Gayatri Indla, Lotus Fetal Medicine Centre, Kurnool
11. Dr Kathirvel M, All India Institute of Medical Sciences, New Delhi
12. Dr Rajeshwari N. Dr Kamakshi Memorial Hospital, Chennai
13. Dr Ambika Gupta, Apollo Genomics Institute, Delhi & Ahmedabad
14. Dr Shifali Gupta, PG Institute of Medical Education and Research (PGIMER), Chandigarh
15. Dr Sheeba Farooqui, Kasturba Medical College, Manipal