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

Autor: Luis Gustavo Celis, Isabel Cristina Almonacid, Esperanza Velasquez, Isabel Fernandez, Jose Dorado, Andreina Zannin Ferrero, Paola Zuleta Quintero, Maria Camila Garzon Viasus, Sergio Vergara Cardenas, Ana Isabel Bracho Fernandez
Rok vydání: 2021
Zdroj: International Journal of Pregnancy & Child Birth. 7:148-150
ISSN: 2574-9889
DOI: 10.15406/ipcb.2021.07.00247
Popis: The Limb-Wall Complex is a rare and sporadic congenital anomaly 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
Databáze: OpenAIRE