2014, Número 1
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Rev Mex Pediatr 2014; 81 (1)
Síndrome de Apert con agenesia renal, ¿una rara asociación?
Urdaneta-Carruyo E, Vargas-Cobos Y, Urdaneta-Contreras AV, Valero RJA , del Valle Alviárez PL, Contreras GPA
Idioma: Español
Referencias bibliográficas: 34
Paginas: 18-21
Archivo PDF: 165.48 Kb.
RESUMEN
El síndrome de Apert es una malformación genética por trasmisión autosómica dominante caracterizada por malformaciones craneofaciales que ocasionan craneosinostosis, hipoplasia del tercio medio de la cara y sindactilia simétrica de manos y pies. Se informa el caso de un niño recién nacido con esta patología, al que además se le encontró agenesia renal unilateral —que excepcionalmente se encuentra descrita en este síndrome —, y se hace una revisión de la literatura que aborda esta enfermedad.
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