Osteogenesis imperfecta type VIII: highlighting the need for genetic testing.
Congenital disorders
Genetics
Orthopaedics
Paediatrics
Journal
BMJ case reports
ISSN: 1757-790X
Titre abrégé: BMJ Case Rep
Pays: England
ID NLM: 101526291
Informations de publication
Date de publication:
12 Jul 2023
12 Jul 2023
Historique:
medline:
14
7
2023
pubmed:
13
7
2023
entrez:
12
7
2023
Statut:
epublish
Résumé
We report a severe form of osteogenesis imperfecta (OI) type VIII from a lower-middle income country. This is the first case report of this type in Tanzania. The term neonate was delivered normally via spontaneous vaginal delivery and presented at the neonatal unit with features of shortened limb girdles and macrocephaly. The long bones had multiple fractures. He was diagnosed clinically to have OI or a type of metaphysial dysplasia. A plain X-ray showed multiple fractures of the long bones. The eyes did not have blue sclerae. Clinically, the generic diagnosis of OI was made.Genetic testing revealed typical prolyl 3-hydroxylase 1 (
Identifiants
pubmed: 37437959
pii: 16/7/e253155
doi: 10.1136/bcr-2022-253155
pmc: PMC10347497
pii:
doi:
Types de publication
Case Reports
Journal Article
Langues
eng
Sous-ensembles de citation
IM
Informations de copyright
© BMJ Publishing Group Limited 2023. Re-use permitted under CC BY-NC. No commercial re-use. See rights and permissions. Published by BMJ.
Déclaration de conflit d'intérêts
Competing interests: None declared.
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