Chao CLA, Labrado BGC, Ibarbia CM, Blanco HK

Language: Spanish
References: 11
Page: 156-159
PDF size: 441.20 Kb.

ABSTRACT

Apert syndrome is an autosomal dominant malformation syndrome, the defect of which is caused by mutations in fibroblast growth factor receptor 2. It is rare in the Cuban population. The case of a 7-year-old white female patient from Venezuela is presented, who comes for craniofacial morphological alterations, as well as in the hands and feet (syndactylia), present from birth, not studied or treated. in your home country. The mother refers that the girl does not suffer from another chronic general disease or has undergone any surgical intervention, she is treated in the International Orthopedic Scientific Complex “Frank Pais” by the International Medical Assistance Service, in a multidisciplinary manner. By the specialties of Orthopedics, Pediatrics, Rehabilitation and Nursing. After completing his study, he was diagnosed as an Apert syndrome, the definitive treatment of his orthopedic conditions was assessed and carried out.

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