ArticleThe Pan African medical journal2022
Malignant infantile osteopetrosis in a 3-year-old Yemeni child: a case report.
Article in The Pan African medical journal, 2022. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 3 papers.
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Who cites it
3 citing papers in PubMed, 4 citations in OpenAlex.
- Multilevel posterior neural arch fractures of the lumbar spine: a rare complication due to prior malignant infantile osteopetrosis.European spine journal : official publication of the European Spine Society, the European Spinal Deformity Society, and the European Section of the Cervical Spine Research Society · 2026Article
- The orthopaedic management of osteopetrosis in paediatric populations: a narrative review of the literature.Frontiers in pediatrics · 2026Review
- Radiological diagnosis of infantile osteopetrosis in a 1-year-old with macrocephaly and jaundice.Radiology case reports · 2025Article
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Authors and funding
4 authors at 1 institution in 1 country.
Funding
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Abstract
Infantile malignant osteopetrosis (IMOP) is a rare bone resorptive disorder with an autosomal recessive inheritance pattern. It is characterized by increased bone density due to osteoclastic failure in differentiation or function. The clinical manifestations of IMOP start at birth or infancy with varied rings according to the type and degree of osteopetrosis. We presented a 3-year-old female patient referred to us due to chronic anaemia six months ago. The physical examination revealed hepatosplenomegaly, axial hypotonia, and visual impairment. Blood investigation revealed pancytopenia and hypocalcemia. Radiologic studies revealed a generalized increase in bone density, abnormal metaphyseal remodelling, and rain atrophy. The bone marrow aspiration (BMA) shows dry tap and hypocellularity of all cell lines. IMOP was diagnosed depending on clinical, radiologic, and BMA results. In conclusion, IMOP is relatively uncommon. Accurate diagnosis should be made through clinical, BMA, and radiologic investigations, especially in a resource-limited setting, as performed in our case.
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