Browsing by Author "Sempertegui, Pablo"

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    Síndrome de Apert, reporte de caso clínico
    (Universidad de Cuenca. Facultad de Ciencias Médicas, 2017-04) Saeteros Cordero, Xavier Eduardo; Serrano Serrano, Adrián; Peñafiel Ortíz, Betcy; Ochoa, Eddy; Silva Vásquez, Mirian; Salinas Pozo, María Victoria; Sempertegui, Pablo; Palacios Astudillo, Rodrigo Xavier
    Apert syndrome also called acrocephalosyndactyly Type I is characterized by craniosynostosis , symmetric syndactyly in all four limbs , mental retardation , skin and maxillofacial disorders ; It is caused by a mutation in the gene receptor 2 fibrobroblástico growth factor expressing FGFR2 autosomal dominant (AD ) . Case report: as is the acrocephaly and syndactyly in the hands and feet of newborn male case, Capurro of 38 weeks approximately, with classical phenotypic characteristics of this syndrome is presented as is the acrocephaly and syndactyly in hands and feet