Related Experiment Video
Updated: Aug 18, 2026

Transuterine Fetal Tracheal Occlusion Model in Mice
Published on: February 5, 2021
Fetal diaphragmatic hernia and upper limb anomalies suggest Brachmann-de Lange syndrome
Teresa Marino1, Patricia G Wheeler, Lynn L Simpson
1Division of Maternal-Fetal Medicine, Department of Pediatrics, New England Medical Center and Tufts University School of Medicine, Boston, MA 02111, USA. tmarino@lifespan.org
Abstract:
We describe two independent cases of Brachmann-de Lange syndrome (BDLS) in which second trimester fetal sonographic studies showed the presence of a diaphragmatic hernia and upper limb anomalies. In both cases the karyotypes were normal. Intrauterine growth restriction (IUGR) developed in the third trimester. Postnatal and postmortem physical examinations demonstrated typical physical findings associated with BDLS. The prenatal diagnosis of diaphragmatic hernia with associated anomalies should prompt consideration of an underlying genetic etiology.
Related Concept Videos
Neurulation
Genomic Imprinting and Inheritance
The expression of some genes depends on which parent passed the gene to the offspring, through a phenomenon known as...
Teratogenicity
Arteries of the Upper Limbs
Fetal Circulation
Two umbilical arteries transport blood from the fetus to the placenta. At the placenta, the blood absorbs oxygen and nutrients while simultaneously eliminating waste products. This oxygen-enriched and nutrient-rich blood then returns to the fetus through one...
Cardiomyopathy III: Hypertrophic Cardiomyopathy

