Article
Síndrome de Apert, reporte de caso clínico
Fecha
2017-04Autor
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
Institución
Resumen
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