Resumo

RAMIREZ, Diana; SALDARRIAGA, Wilmar; PACHAJOA, Harry  e  ISAZA, Carolina. Apert syndrome, an approach to a clinical diagnosis. Case report. Salud, Barranquilla [online]. 2010, vol.26, n.1, pp.165-169. ISSN 0120-5552.

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 female newborn of 36 weeks gestational age, 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.

Palavras-chave : Acrocefalosindactylia; ACS; FGFR2.

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