Camargo LE, Serrano FZ

Language: Spanish
References: 0
Page: 955-959
PDF size: 261.68 Kb.

ABSTRACT

Introduction: Apert syndrome is an autosomal dominant disorder, this defect is caused by a spontaneous mutation, which affects receptor 2 of the fibroblast growth factor. Case report: a case of Apert syndrome was presented in a patient whose disease caused retardation in all areas of development, knowledge, language, self-care, social, motor (gross and fine), she received medical, surgical and rehabilitating treatment, obtaining favorable results, providing a better quality of life. Conclusion: a genetic dysmorphic syndrome was diagnosed, craniosynostosis and syndactyly predominated; the patient was assessed by a multidisciplinary team, where Apert syndrome was diagnosed.