Duane syndrome in association with congenital disorder of glycosylation type Ig (ALG12-CDG).
J AAPOS
; 28(4): 103954, 2024 Aug.
Article
en En
| MEDLINE
| ID: mdl-38876156
ABSTRACT
Congenital disorders of glycosylation type I (CDG-I) are a group of autosomal recessive genetic multisystem disorders that arise from defective glycoprotein biosynthesis. Although ocular abnormalities have been described in patients with CDG-I, few ocular abnormalities have been associated with ALG12-CDG (CDG-Ig), a rare subtype of CDG-I. We report a case of Duane syndrome, a congenital strabismus syndrome, in a 17-year-old young woman with ALG12-CDG.
Texto completo:
1
Colección:
01-internacional
Base de datos:
MEDLINE
Asunto principal:
Síndrome de Retracción de Duane
/
Trastornos Congénitos de Glicosilación
Límite:
Adolescent
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Female
/
Humans
Idioma:
En
Revista:
J AAPOS
Asunto de la revista:
OFTALMOLOGIA
/
PEDIATRIA
Año:
2024
Tipo del documento:
Article