Citas bibligráficas
Chavez, G., (2021). Focomelia en extremidades superiores e inferiores en un lactante de 8 meses [Tesis, Universidad Privada Antenor Orrego - UPAO]. https://hdl.handle.net/20.500.12759/7172
Chavez, G., Focomelia en extremidades superiores e inferiores en un lactante de 8 meses [Tesis]. PE: Universidad Privada Antenor Orrego - UPAO; 2021. https://hdl.handle.net/20.500.12759/7172
@misc{renati/381051,
title = "Focomelia en extremidades superiores e inferiores en un lactante de 8 meses",
author = "Chavez Serrano, Grace Carmen",
publisher = "Universidad Privada Antenor Orrego - UPAO",
year = "2021"
}
Introduction: Focomelia (Roberts syndrome) autosomal recessive disorder, due to a mutation in the ESCO2 gene, is characterized by the shortening of the extremities more than the upper than the lower ones, mental retardation, syndactyly, microcephaly and congenital heart defects. Presentation of the case: the case is reported at the Eleazar Guzmán Barrón Regional Hospital (HREGB) in Nuevo Chimbote, of an 8-month-old infant, with absence of upper extremities, shortening of the lower extremities with oligodactyly, with recurrent infectious processes from the first month of life as acute diarrheal disease, pneumonia, recurrent bronchial obstructive syndrome, for which he had 5 hospitalizations, the last one referring to Lima. Conclusion: In Peru there is not enough literature on this syndrome, the differential diagnoses of limb defects are wide. Early prenatal control and an adequate cytogenetic study are important, which were not performed in the present case.
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