Síndrome GAPO, a propósito de un caso / GAPO syndrome: case report
Rev. pediatr. electrón
; 14(3): 23-27, oct. 2017. ilus
Article
in Spanish
| LILACS
| ID: biblio-986895
Responsible library:
CL126.3
RESUMEN
El síndrome GAPO es una rara enfermedad autosómica recesiva caracterizada por retraso en el crecimiento, alopecia, pseudoanodoncia y atrofia óptica. Se han descrito mutaciones en el gen ANTXR1 como origen etiológico. Presenta afectación de múltiples aparatos, por lo que requiere un manejo multidisciplinar para lograr su adecuado tratamiento.
ABSTRACT
GAPO syndrome is a rare autosomal recessive disease characterized by growth retardation, alopecia, pseudoanodontia and optic atrophy. Gene alterations in the ANTXR1 gene have been reported to be causative of this disorder. Abnormalities of diverse organs and systems have been described. A multidisciplinary management to achieve an adequate treatment is required.
Full text:
Available
Collection:
International databases
Database:
LILACS
Main subject:
Optic Atrophy
/
Alopecia
/
Growth Disorders
/
Anodontia
Limits:
Child
/
Female
/
Humans
Language:
Spanish
Journal:
Rev. pediatr. electrón
Journal subject:
Pediatrics
Year:
2017
Document type:
Article
Affiliation country:
Spain
Institution/Affiliation country:
Hospital Universitari i politècnic la Fe/ES