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Revista Mexicana de Pediatría

ISSN 0035-0052 (Impreso)
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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
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Idioma: Español
Referencias bibliográficas: 34
Paginas: 18-21
Archivo PDF: 165.48 Kb.


PALABRAS CLAVE

Acrocefalia, craneosinostosis, sindactilia, dimorfismo, mutación, agenesia renal.

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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