Síndrome de pfeiffer. A propósito de un caso

espanolEl sindrome de Pfeiffer (SP) es una enfermedad genetica rara, descrita por Peiffer en 1964, que cursa con craneosinostosis, hipoplasia medio facial, sindactilia y pulgares gruesos con un amplio rango de severidad. Presentamos un caso, con revision de la literatura. La obstruccion de la via aerea superior en relacion con la hipoplasia medio facial es una complicacion frecuente en los casos graves, que debe valorarse y tratarse de manera precoz. EnglishPfeiffer syndrome (PS) is a rare genetical disorder, originally described by Pfeiffer in 1964, and is characterized by craniosynostosis, regressed midface, syndactyly of hands and feet, and broad thumbs and big toes, with a wide range of variable severity. We report a case with a review of literature. Obstruction of the upper airway in relation to the midface hypoplasia is a frequent complication in severe cases to be assessed and treated early.