Bone-in-bone and sandwich vertebrae in a 6-month-old infant with genetically confirmed fatal osteopetrosis: A case report

Plain X-ray radiographs have crucial diagnostic value for early identification of ARO in infants. Because computed tomography entails high radiation exposure and is not suitable for infants, X-ray remains the preferred initial imaging modality. Prompt genetic testing and timely hematopoietic stem cell transplantation are essential for improving outcomes in this otherwise fatal disorder.

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Publication Details

Journal
Medicine
Published
2025-11-21
DOI
https://doi.org/10.1097/md.0000000000045954
Primary Topic
Bone Metabolism and Diseases
Type
article
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0.00
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article

Bone-in-bone and sandwich vertebrae in a 6-month-old infant with genetically confirmed fatal osteopetrosis: A case report

Junyan Zhang, Fang Hou
Medicine
Bone Metabolism and Diseases
article

Bone-in-bone and sandwich vertebrae in a 6-month-old infant with genetically confirmed fatal osteopetrosis: A case report

Junyan Zhang, Fang Hou
article en

Abstract

Plain X-ray radiographs have crucial diagnostic value for early identification of ARO in infants. Because computed tomography entails high radiation exposure and is not suitable for infants, X-ray remains the preferred initial imaging modality. Prompt genetic testing and timely hematopoietic stem cell transplantation are essential for improving outcomes in this otherwise fatal disorder.

MedicineVol. 104(47)
Shanxi Academy of Medical Sciences (CN), Shanxi Datong University (CN)
Openalex Percentile: Top 67%
Bone Metabolism and Diseases
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