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- Title
A case of osteopathia striata with cranial sclerosis with facial nerve palsies.
- Authors
Yamagishi, Hirokazu; Monden, Yukifumi; Michigami, Toshimi; Tachikawa, Kanako; Osaka, Hitoshi; Nozaki, Yasuyuki; Tajima, Toshihiro
- Abstract
The article presents a case study of a 12-year-old female with osteopathia striata with cranial sclerosis (OS-CS), a rare X-linked dominantly inherited bone dysplasia caused by mutations in the WTX gene. Topics discussed include the clinical features of OS-CS, the rarity of facial nerve palsy as a complication, and the potential impact of bone thickening on treatment response.
- Subjects
ANTIBIOTICS; GENETIC disorder diagnosis; BONE diseases; PREDNISOLONE; GENETIC testing; TREATMENT effectiveness; OSTEOCHONDRODYSPLASIAS; FACIAL nerve diseases; COMPUTED tomography; RARE diseases; OTITIS media
- Publication
Pediatrics International, 2023, Vol 65, Issue 1, p1
- ISSN
1328-8067
- Publication type
Case Study
- DOI
10.1111/ped.15648