Contributed by: Dr. J P Soni  
  This 16-year-old girl and her 9-year-old sister presented with hepatosplenomegaly, hyperglycemia and hypertriglyceridemia. Their developmental milestones and intellectual functions were normal. Identify the condition.  

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Answer to PhotoQuiz 36
Campomelic dysplasia (OMIM # 114290)
Campomelic dysplasia is an autosomal dominant skeletal dysplasia characterized by congenital shortness and bowing of long bones, especially in the lower extremities, as well as hypoplastic scapulae, narrow iliac wings and non-mineralized thoracic pedicles. The other features include distinctive facies, cleft palate, laryngotracheomalacia and sex reversal in individuals with 46,XY chromosomal constitution. The condition is often lethal due to respiratory insufficiency. Mutations in SOX9 gene are known to cause campomelic dysplasia.
Correct responses were given by:
1. Beena Suresh, Chennai
2. Prashant Kumar Verma, Jaipur
3. Ashish Gupta, New Delhi
4. Alka Ekbote, Aurangabad
5. Shraddha Mular, Vellore