Home|Journals|Articles by Year|Audio Abstracts

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

Full-text options

Share this Article

Online Article Submission
• ejmanager.com

ejPort - eJManager.com
Refer & Earn
About BiblioMed
License Information
Terms & Conditions
Privacy Policy
Contact Us

The articles in Bibliomed are open access articles licensed under Creative Commons Attribution 4.0 International License (CC BY), which permits use, sharing, adaptation, distribution and reproduction in any medium or format, as long as you give appropriate credit to the original author(s) and the source, provide a link to the Creative Commons licence, and indicate if changes were made. To view a copy of this licence, visit http://creativecommons.org/licenses/by/4.0/.