RESUMO
Bardet-Biedl syndrome (BBS) is a ciliopathy that is responsible for multiple visceral abnormalities. This disorder is defined by a combination of clinical signs, many of which appear after several years of development. BBS may be suspected antenatally based on routine ultrasound findings of enlarged hyperechogenic kidneys and postaxial polydactyly.
RESUMO
La pentalogía de Cantrell es una anomalía congénita rara que acontece 1 por 100.000 embarazos; los defectos extensos a nivel de la fusión de la línea media craneofacial, torácica y abdominal caracterizan a este cuadro con una elevada morbimortalidad. Presentamos dos casos de pentalogía de Cantrell diagnosticados en nuestro hospital a las 12 semanas de gestación, ambos en gestaciones únicas, con cariotipo 46XX y uno de ellos con el hallazgo de microdelección de cromosoma 22q11 (AU)
Pentalogy of Cantrell is a rare congenital abnormality reported in 1 per 100,000 pregnancies. Large defects in craniofacial midline fusion, as well as thoracic and abdominal defects, are the main features of this syndrome that entails high morbidity and mortality. We present two cases of pentalogy of Cantrell identified in our hospital at 12 weeks of pregnancy. Both were singleton pregnancies, with 46XX karyotype, and one of them with a microdeletion in chromosome 22q11. We describe the clinical maternal characteristics, as well as the most relevant ultrasonographic findings (AU)
