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Genetic and imaging study of a case with multiple malformations: limb body wall complex


International Journal of Pregnancy & Child Birth
Luis Gustavo Celis,1 Isabel Cristina Almonacid,2 Esperanza Velasquez,2 Isabel Fernández,3 Jose Dorado,1Andreina Zannin Ferrero,1 Paola Zuleta Quintero,1 María Camila Garzón Viasus,1 Sergio Vergara Cardenas,1Ana Isabel Bracho Fernandez3

Abstract

The Limb-Wall Complex is a rare and sporadic congenital anomaly characterized by multiple malformations characterized by multiple craniofacial and thoracoabdominal malformations as well as involvement of the spine and lower extremities. The etiology is unknown and the chromosomal study is normal, however, it is related to an alteration in the formation of the umbilical cord (short umbilical cord), abdominal placental insertion and persistence of the extraembryonic coelom. This condition causes intracavitary organs to be exposed and adhered to the placenta and consequently also attached to the mother’s uterus. The diagnosis can be made from the first trimester of gestation with a nuchal translucency ultrasound in order to detect this pathology in time and to be able to offer good genetic counseling to the parents, since the prognosis is not favorable.

Keywords

limb- body wall complex, congenital anomaly, exencephaly, gastroschisis, clubfoot, abdominal wall defects

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