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Apert syndrome

Authors: Elsa Camargo Luaces; Zulema Serrano Figueroa;
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.

Keywords

ACROCEFALOSINDACTILIA, Medicine (General), R5-920, R, Medicine, CRANEOSINOSTOSIS, SINDACTILIA.

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selected citations
These citations are derived from selected sources.
This is an alternative to the "Influence" indicator, which also reflects the overall/total impact of an article in the research community at large, based on the underlying citation network (diachronically).
BIP!Citations provided by BIP!
popularity
This indicator reflects the "current" impact/attention (the "hype") of an article in the research community at large, based on the underlying citation network.
BIP!Popularity provided by BIP!
influence
This indicator reflects the overall/total impact of an article in the research community at large, based on the underlying citation network (diachronically).
BIP!Influence provided by BIP!
impulse
This indicator reflects the initial momentum of an article directly after its publication, based on the underlying citation network.
BIP!Impulse provided by BIP!
0
Average
Average
Average
gold