Apert syndrome
Keywords:
ACROCEPHALOSYNDACTYLIA, CRANIOSYNOSTOSES, SYNDACTYLY.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.
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