A non-lethal presentation of osteogenesis imperfecta type VIII due to homozygous mutation in
Calcium and bone
Endocrinology
Paediatrics
Journal
BMJ case reports
ISSN: 1757-790X
Titre abrégé: BMJ Case Rep
Pays: England
ID NLM: 101526291
Informations de publication
Date de publication:
24 Oct 2024
24 Oct 2024
Historique:
medline:
26
10
2024
pubmed:
26
10
2024
entrez:
25
10
2024
Statut:
epublish
Résumé
A female toddler presented with short stature and hypermobility of limbs. She had sustained five long bone fractures following minor trauma since early infancy. Skeletal survey was consistent with osteogenesis imperfecta. This was genetically proven on clinical exome analysis, which revealed a pathogenic homozygous autosomal recessive
Identifiants
pubmed: 39455078
pii: 17/10/e260133
doi: 10.1136/bcr-2024-260133
pii:
doi:
Substances chimiques
P3H1 protein, human
EC 1.14.11.7
Pamidronate
OYY3447OMC
Cyclophilins
EC 5.2.1.-
Bone Density Conservation Agents
0
Codon, Nonsense
0
Membrane Glycoproteins
0
Proteoglycans
0
Prolyl Hydroxylases
EC 1.14.11.-
Types de publication
Case Reports
Journal Article
Langues
eng
Sous-ensembles de citation
IM
Informations de copyright
© BMJ Publishing Group Limited 2024. No commercial re-use. See rights and permissions. Published by BMJ.
Déclaration de conflit d'intérêts
Competing interests: None declared.