Síndrome GAPO, a propósito de un caso
José María García-Sánchez1, Laura Ibáñez Beltrán2, Eva López Blanco3, Patricia Gutiérrez Ontalvilla3
1 Médico Interno Residente Servicio de Cirugía Plástica, Hospital Universitari i politècnic la Fe, Valencia (España)
2 Médico Interno Residente Servicio de Pediatría, Hospital Universitari i politècnic la Fe, Valencia (España)
3 Médico Adjunto Servicio de Cirugía Plástica, Hospital Universitari i politècnic la Fe, Valencia (España)
Resumen |Abstract | Texto completo | Descargar cuerpo en pdf |
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.
Keywords
Growth retardation, Alopecia, Pseudoanodontia, Optic atrophy. |
