Resumen

HOYOS SERRANO, Maddelainne  y  ROJAS MAMANI, Jimmy. SINDROME DE APERT (SA). Rev. Act. Clin. Med [online]. 2014, vol.46, pp. 2452-2456. ISSN 2304-3768.

Apert syndrome (AS) or Acrocephalosyndactyly type I is a congenital malformation caused by a mutation in the receptor gene growth factor type 2 (FGFR2) fibroblasts, this disease is characterized by severe craniosynostosis, hypoplasia of the middle third of the face, symmetrical syndactyly of hands and feet, acne, generalized hyperhidrosis, sinoniquia, moderate mental retardation or normal intelligence and many anomalies in other visceral organs. The prevalence of SA is for 1 case in 65,000 births to 1 in 160,000 live births. The observation of clinical features is sufficient for diagnosis, however you can perform ultrasounds from 20VA week of gestation to evidence and provide cranial malformations and subsequent months of pregnancy and type of delivery that will be place. The treatment for this syndrome should be multidisciplinary, so neurosurgeons, maxilofaciones surgeons, dentists, orthodontists, otolaryngologists, ophthalmologists, orthopedists, orthotists, speech therapists, psychomotor therapists, etc..involved in handling each case, the most frequent interventions: reconstruction of the cranial vault, overtaking the hypoplastic lower third of the face, increased volume of the orbits, reconstruction of the oral area, correction of body posture and more.

Palabras llave : Apert syndrome; Acrocephalosyndactylia type I; syndromiccraniosynostosis.