Osteopetrosis in the pediatric patient: what the radiologist needs to know.
Bone
Genetics
Imaging
Musculoskeletal
Osteopetrosis
Osteosclerosis
Pediatric
Journal
Pediatric radiology
ISSN: 1432-1998
Titre abrégé: Pediatr Radiol
Pays: Germany
ID NLM: 0365332
Informations de publication
Date de publication:
14 Mar 2024
14 Mar 2024
Historique:
received:
02
10
2023
accepted:
27
02
2024
revised:
26
02
2024
medline:
14
3
2024
pubmed:
14
3
2024
entrez:
14
3
2024
Statut:
aheadofprint
Résumé
Osteopetrosis describes several types of rare sclerosing bone dysplasias of varying clinical and radiographic severity. The classic autosomal dominant subtype emerges most often in adolescence but can present from infancy through adulthood. The autosomal recessive osteopetrosis, or "malignant infantile osteopetrosis," presents in infancy with a grimmer prognosis, though the autosomal dominant forms (often mislabeled as "benign") actually can have life-threatening consequences as well. Often osteopetrosis is detected due to skeletal findings on radiographs performed to evaluate injury or as an incidental finding during evaluation for illness. Given the varied phenotypic severity and presentations at different ages, radiologists play an integral role in the care of these patients both in diagnosis and in clinical evaluation and monitoring. A deeper understanding of the underlying genetic basis of the disease can aid in the radiologist in diagnosis and in anticipation of unique complications. An overview of current clinical management is also discussed.
Identifiants
pubmed: 38483591
doi: 10.1007/s00247-024-05899-4
pii: 10.1007/s00247-024-05899-4
doi:
Types de publication
Journal Article
Langues
eng
Sous-ensembles de citation
IM
Subventions
Organisme : NIAMS NIH HHS
ID : R01AR077869 and R01AR084202
Pays : United States
Informations de copyright
© 2024. The Author(s), under exclusive licence to Springer-Verlag GmbH Germany, part of Springer Nature.
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