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- W2890695995 abstract "Osteopetrosis is a rare, heterogeneous group of inherited diseases characterized by increased bone mass and density due to defective osteoclasts, leading to failure in bone resorption. Pathological features are related to increase in bone mass density and altered craniofacial morphology. Cranial nerve compression due to narrowing of cranial foramina can lead to progressive blindness and deafness. Bone marrow failure can lead to pancytopenia and life-threatening infections. Early diagnosis is crucial due to a short window of opportunity for curative treatment and to prevent complications such as visual impairment. We present the case of a late-preterm infant who had recurrent hypocalcemic seizures and visual impairment. Genetic testing confirmed the diagnosis of autosomal recessive osteopetrosis." @default.
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- W2890695995 date "2018-01-01" @default.
- W2890695995 modified "2023-09-27" @default.
- W2890695995 title "Hypocalcemia, seizures, and impairment of vision in a neonate" @default.
- W2890695995 doi "https://doi.org/10.4103/jcn.jcn_63_17" @default.
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