An Extremely Rare, Atypical and Genetically-undetermined Form of Osteopetrosis.
Sclerosis
craniometaphyseal dysplasia
diagnostic imaging
metabolic bone disease.
osteopetrosis
x-rays
Journal
Current medical imaging
ISSN: 1573-4056
Titre abrégé: Curr Med Imaging
Pays: United Arab Emirates
ID NLM: 101762461
Informations de publication
Date de publication:
2021
2021
Historique:
received:
27
08
2020
revised:
05
11
2020
accepted:
14
12
2020
pubmed:
30
1
2021
medline:
9
11
2021
entrez:
29
1
2021
Statut:
ppublish
Résumé
Osteopetrosis is an uncommon skeletal disorder characterized by generalized sclerosis of bones due to defective osteoclast function. A wide variation in clinical severity of the disease has been observed. Radiographic features and genetic testing are commonly used to diagnose the condition. In the present study, we present a case of an extremely rare, atypical and genetically- undetermined form of Osteopetrosis. This patient had some clinical and radiological features of craniometaphyseal dysplasia along with atypical radiological signs of osteopetrosis.
Identifiants
pubmed: 33511927
pii: CMIR-EPUB-113788
doi: 10.2174/1573405617666210129111339
doi:
Types de publication
Case Reports
Journal Article
Langues
eng
Sous-ensembles de citation
IM
Pagination
1036-1039Informations de copyright
Copyright© Bentham Science Publishers; For any queries, please email at epub@benthamscience.net.