Contributed by: Dr Prajnya Ranganath Department of Medical Genetics, Nizam's Institute of Medical Sciences, Hyderabad, India
	Email: prajnyaranganath@gmail.com
	This 9-year-old boy was referred for evaluation of short stature and bony deformities. Identify the condition.
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Answer to PhotoQuiz 62

Multiple Enchondromatosis/ Ollier Disease

Ollier disease is a rare disorder characterized by multiple enchondromas, which are usually asymmetrically distributed and mostly involve the appendicular skeleton. It usually presents with painless bony masses, with the most frequently affected sites being the hands (phalanges and metacarpals) and the metaphyses and diaphyses of long bones. Genu valgus and cubitus varus deformity, limitation of joint mobility, leg-length discrepancy, pathological fractures, and facial asymmetry may also be seen. There is an increased risk of malignancies especially chondrosarcoma. Somatic mosaicism for variants in IDH1, IDH2 or PTH1R have been found to be associated with this disorder.

Correct responses were given by:

1. Dr Rajeshwari N. Kamakshi Memorial Hospital, Chennai 2. Dr Riyaz Arakkal. KMCT Medical College, Calicut, Kerala. 3. Dr Sarah Bailur. Rainbow Children's Hospital, Hyderabad 4. Dr Karthikeyan PS. Masonic Medical Centre for Children, Coimbatore, Tamil Nadu. 5. Dr Vibha Jain. Anuvanshiki – The Genetic Clinic, Ghaziabad, Delhi NCR. 6. Dr Surya G Krishnan. Centre for Human Genetics, Bangalore. 7. Dr Selva Manoj Kumar. All India Institute of Medical Sciences, New Delhi. 8. Dr Ravneet. Fortis Hospital, Mohali, Chandigarh.