Language
English
Publication Date
3-1-2024
Journal
The Journal of Pediatrics: Clinical Practice
DOI
10.1016/j.jpedcp.2024.200100
PMID
38827482
PMCID
PMC11138251
PubMedCentral® Posted Date
3-14-2024
PubMedCentral® Full Text Version
Post-print
Abstract
We present a newborn with transient generalized osteosclerosis and negative genetic workup. The etiology of this condition is unknown. Given overlapping radiologic signs with severe forms of osteopetrosis, familiarity with this condition is crucial for correct diagnosis and management.
Keywords
Transient osteosclerosis, Osteopetrosis, heritable bone diseases, radiological findings, bone mineral density disorder, whole genome sequencing, infantile osteopetrosis, autosomal recessive osteopetrosis
Published Open-Access
yes
Recommended Citation
Hauck, Jeffrey; Gerard, Amanda; Crowe, James E; et al., "Transient Generalized Osteosclerosis in a Newborn Mimicking Congenital Osteopetrosis with Negative Comprehensive Genetic Workup: A Case Report" (2024). Faculty and Staff Publications. 5200.
https://digitalcommons.library.tmc.edu/baylor_docs/5200
Included in
Genetic Phenomena Commons, Genetic Processes Commons, Genetic Structures Commons, Medical Genetics Commons, Medical Molecular Biology Commons, Medical Specialties Commons