Volumen 17 número 2 - Agosto 2020
ISSN 0718-0918
Tabla de Contenidos > Caso Clínico
Yadira Janet González Paredes; Leopoldo Gómez Guillermo Prieto; Eduardo Augusto Ordoñez Gutiérrez
Servicio Medicina Interna Pediátrica. Centro Médico Nacional “20 de noviembre”
I.S.S.S.T.E México D.F. México

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Introduction: Apert’s syndrome or acrocefalosindactyly tipe I, is a syndrome character­ized by craniosynostosis, symmetric syndactylia in hands and feet’s, maxillofacial and cutaneous disorders, and variable mental retardation. This syndrome is due to a mutation in the gene that encode the fibroblast growth factor Receptor 2 (FGFR2), which has an autosomal dominant inheritance (AD).

Case report: We report a male24 yearsoldteen, with the classical phenotypic characteristics of this syndrome, as acrocefalia and syndactyly of hands and feet.

Discussion: Apert’s syndrome is part of what today is called a spectrum of disease caused by a mutation in the FGFR2 gene, which is characterized by abnormalities in the skull and extremities. This gene is required for normal ossification and is also involved in neural differentiation. Mutations cause an abnormal receptor that functions even without the binding of its ligand “gain of function”, which translates into an early ossification of the bones, in varying degrees, depending on the exact site of the mutation.

Key words: Acrocefalosindactylia, ACS, FGFR2.
Revista Pediatría Electrónica
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ISSN 0718-0918