Bibliographic citations
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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"
}
Title: Focomelia en extremidades superiores e inferiores en un lactante de 8 meses
Authors(s): Chavez Serrano, Grace Carmen
Advisor(s): Ruiz Mendez, Angel Pedro
OCDE field: http://purl.org/pe-repo/ocde/ford#3.02.03
Issue Date: 2021
Institution: Universidad Privada Antenor Orrego - UPAO
Abstract: Introducción: Focomelia (Síndrome de Roberts) trastorno autosómico
recesivo, por una mutación en el gen ESCO2, se caracteriza por el
acortamiento de las extremidades más de las superiores que de las inferiores,
retraso mental, sindactilia, microcefalia y cardiopatías congénitas.
Presentación del caso: se reporta el caso en el Hospital Regional Eleazar
Guzmán Barrón (HREGB) de Nuevo Chimbote, de un lactante de 8 meses, con
ausencia de extremidades superiores, acortamiento de las extremidades
inferiores con oligodactilia, con procesos infecciosos recurrentes desde el
primer mes de vida como Enfermedad diarreica aguda, Neumonía, Síndrome
obstructivo bronquial recurrente por lo cual tuvo 5 hospitalizaciones siendo la
última referida a Lima. Conclusión: En el Perú no existe suficiente literatura
sobre este síndrome, los diagnósticos diferenciales de los defectos de
extremidades son amplios. Es importante el control prenatal precoz y un
estudio citogenético adecuado que en el presente caso no se realizó.
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.
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.
Link to repository: https://hdl.handle.net/20.500.12759/7172
Discipline: Medicina Humana
Grade or title grantor: Universidad Privada Antenor Orrego. Facultad de Medicina Humana
Grade or title: Médico Cirujano
Register date: 1-Feb-2021
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