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Case Report

Malignant infantile osteopetrosis with cleft lip—a case report

Pabbati Jayalakshmi, Preethi Subramaniam, Regina Divya, Aravind.


Malignant infantile osteopetrosis (MIOP), a rare congenital disorder of bone resorption, is caused by the failure of osteoclasts to reabsorb immature bones. We report a 3-month-old female child with cleft lip who was referred to the pediatric department for consultation. She was born to consanguineous parents, and the elder sibling expired at the age of 3 years owing to recurrent respiratory tract infections and hydrocephalus. On examination, we found pallor and hepatosplenomegaly. On follow-up, we came to know that she exhibited delayed developmental history and bilateral optic atrophy. Skeletal radiographs showed dense bones with “bone-in-bone” appearance. The overall clinical features and radiological findings of these patients were sufficient to arrive at the diagnosis of MIOP.

Key words: Osteopetrosis, optic atrophy, pallor, radiological findings

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