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Dr. Sheela Nampoothiri, Professor, Department of Paediatrics, School of Medicine, Kochi, and pediatric geneticist at Amrita Institute of Medical Sciences, Kochi, with her knowledge, extends a helping hand to Neena Nizar to identify her rare medical condition. Neena was almost-four-feet-tall, and had an unidentified skeletal condition that made her bones bend. Dwarfism, rickets and polio were some of the terms doctors had tossed around since her childhood but no one was certain what the real problem was. But Dr. Sheela had answers for her condition. It was Jansen’s Metaphyseal Chondrodysplasia (JMC) – a progressive bone disorder so rare that there are only 30 known cases in the world; three were Neena and her two sons. The disorder causes portions of the bones of the limbs to develop abnormally. It is also accompanied by high levels of calcium in the blood.

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