| 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 4.5 months-old male child, born to second degree consanguineous parents, was referred for evaluation of contractures of elbow, knee and ankle joints along with edema of the hand and feet and skin lesions on the lower limbs. He had excessive crying due to severe pain with movement. His elder male sibling had similar features and chronic diarrhoea with failure to thrive and had died at around 6 months of age. Identify the condition. | ||
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| Answer to PhotoQuiz 42 |
| The MRI shows holoprosecephaly. (Semilobar type). Holoprosencephaly can be caused due to environmental or genetic causes. Genetics causes could be due to chromosomal abnormalities or single gene disorders. Craniofacial abnormalities like cleft lip/palate are seen in 80% of individuals with holoprosencephaly. |
| Correct responses were given by: |
| 1. Meenakshi Lallar,Rohtak |
| 2. Ashka Prajapati, Ahmedabad |
| 3. Jagadish Bhat, Goa |
| 4. Lekshmi S Nair, Hyderabad |
| 5. Jayaprakash KP, Kottayam |