Ophthalmic abnormalities in Wieacker-Wolff syndrome.
J AAPOS
; 26(2): 91-93, 2022 04.
Article
en En
| MEDLINE
| ID: mdl-35121145
ABSTRACT
Wieacker-Wolff syndrome is an X-linked condition caused by variants of the ZC4H2 gene that results in in utero muscular weakness that manifests clinically as arthrogryposis congenita as well as facial and bulbar weakness. We report the case of a young girl with a de novo pathogenic deletion in the ZC4H2 gene and clinical features consistent with Wieacker-Wolff syndrome. Common eye manifestations of the syndrome reported in the literature include ptosis, strabismus, and oculomotor apraxia. The overall incidence of these manifestations is 56%.
Texto completo:
1
Colección:
01-internacional
Base de datos:
MEDLINE
Asunto principal:
Apraxias
/
Enfermedades Genéticas Ligadas al Cromosoma X
Límite:
Female
/
Humans
Idioma:
En
Revista:
J AAPOS
Asunto de la revista:
OFTALMOLOGIA
/
PEDIATRIA
Año:
2022
Tipo del documento:
Article