Osteopathia striata with cranial sclerosis causing a compressive optic neuropathy.
AMER1 mutation
Osteopathia striata with cranial sclerosis
compressive optic neuropathy
disc edema
skeletal dysplasia
Journal
Ophthalmic genetics
ISSN: 1744-5094
Titre abrégé: Ophthalmic Genet
Pays: England
ID NLM: 9436057
Informations de publication
Date de publication:
10 2023
10 2023
Historique:
medline:
22
9
2023
pubmed:
30
11
2022
entrez:
29
11
2022
Statut:
ppublish
Résumé
Osteopathia striata combined with cranial sclerosis (OS-CS) is an inherited skeletal dysplasia that manifests with macrocephaly, orofacial abnormalities, thickened craniofacial bones, and vertically oriented radiodensities of the long bones. Here, we present a severe case of OS-CS in a 4-year-old girl causing optic neuropathy as shown by radiographic evidence, ophthalmic findings, and histopathology. Previous genetic testing in this patient revealed a
Sections du résumé
BACKGROUND
Osteopathia striata combined with cranial sclerosis (OS-CS) is an inherited skeletal dysplasia that manifests with macrocephaly, orofacial abnormalities, thickened craniofacial bones, and vertically oriented radiodensities of the long bones.
CASE REPORT
Here, we present a severe case of OS-CS in a 4-year-old girl causing optic neuropathy as shown by radiographic evidence, ophthalmic findings, and histopathology. Previous genetic testing in this patient revealed a
Identifiants
pubmed: 36446546
doi: 10.1080/13816810.2022.2144902
doi:
Types de publication
Case Reports
Journal Article
Langues
eng
Sous-ensembles de citation
IM