Dysosteosclerosis: Clinical and Radiological Evolution Reflecting Genetic Heterogeneity.
BONE TURNOVER
COLONY STIMULATING FACTOR
CSF1R
DEVELOPMENTAL DELAY
DUAL‐ENERGY X‐RAY ABSORPTIOMETRY
FRACTURES
HYPERCALCEMIA
LRRK1
METABOLIC BONE DISEASE
METAPHYSEAL DYSPLASIA
METAPHYSEAL SCLEROSIS
OSTEOCALCIN
OSTEOPETROSIS
OSTEOSCLEROSIS
PYLE DISEASE
RANK
RANKL
RECEPTOR ACTIVATOR OF NUCLEAR FACTOR ΚB
SKELETAL DYSPLASIA
SLC29A3
TCIRG1
TNFRSF11A
Journal
JBMR plus
ISSN: 2473-4039
Titre abrégé: JBMR Plus
Pays: England
ID NLM: 101707013
Informations de publication
Date de publication:
Aug 2022
Aug 2022
Historique:
received:
29
04
2022
accepted:
27
06
2022
entrez:
22
8
2022
pubmed:
23
8
2022
medline:
23
8
2022
Statut:
epublish
Résumé
Dysosteosclerosis (DSS), the term coined in 1968 for ultrarare dysplasia of the skeleton featuring platyspondyly with focal appendicular osteosclerosis, has become generic by encompassing the genetic heterogeneity recently reported for this phenotype. We studied four unrelated Turkish patients with DSS to advance understanding of the new nosology. Patient 1 suffered femur fractures beginning at age 1 year. DSS was suspected from marked metaphyseal osteosclerosis in early childhood and subsequently platyspondyly accompanying patchy osteosclerosis of her appendicular skeleton. She harbored in
Identifiants
pubmed: 35991533
doi: 10.1002/jbm4.10663
pii: JBM410663
pmc: PMC9382861
doi:
Types de publication
Journal Article
Langues
eng
Pagination
e10663Informations de copyright
© 2022 The Authors. JBMR Plus published by Wiley Periodicals LLC on behalf of American Society for Bone and Mineral Research.
Déclaration de conflit d'intérêts
None.
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