alexa Alobar holoprosencephaly, mobile proboscis and trisomy 13 in a fetus with maternal gestational diabetes mellitus: A 2D ultrasound diagnosis and review of the literature
Genetics & Molecular Biology

Genetics & Molecular Biology

Human Genetics & Embryology

Author(s): Giampiero Capobianco, Pier Luigi Cherchi, Guido Ambrosini, Salvatore Dessole

Abstract Share this page

Alobar holoprosencephaly is a rare and severe brain malformation due to early arrest in brain cleavage and rotation. We report a congenital anomalous fetus with alobar holoprosencephaly, prenatally diagnosed by two-dimensional (2D) sonography at the 40 weeks of gestation. The mother was affected by gestational diabetes mellitus and was obese (BMI > 30 kg/m(2)). 2D Ultrasound depicted the cerebral malformation, cyclopy, proboscis, cardiac defects (atrial septal defect, hypoplastic left heart, anomalous communication between right ventricle and aorta) and extremities defects. The newborn died just after delivery. External examination confirmed a mobile proboscis-like nose on the normal nose position. The fetus had both claw hands. The right and left feet showed to be equine. Autopsy confirmed the ultrasound diagnosis and chromosome analysis revealed trisomy 13 (47,XY,+13). Fetopathologic examination showed cyclopy, proboscis and alobar holoprosencephaly of the fetus, which was consistent with Patau syndrome. The teratogenic effect of diabetes on fetus has been described, but no previous clinical case of a congenital anomalous fetus with trisomy 13 and maternal gestational diabetes has been reported. This case report is the first to describe 2D ultrasound diagnosis of alobar holoprosencephaly and trisomy 13 with maternal gestational diabetes mellitus.

  • To read the full article Visit
  • Open Access
This article was published in Research Gate and referenced in Human Genetics & Embryology

Relevant Expert PPTs

Relevant Speaker PPTs

Recommended Conferences

Relevant Topics

Peer Reviewed Journals
Make the best use of Scientific Research and information from our 700 + peer reviewed, Open Access Journals
International Conferences 2017-18
Meet Inspiring Speakers and Experts at our 3000+ Global Annual Meetings

Contact Us

© 2008-2017 OMICS International - Open Access Publisher. Best viewed in Mozilla Firefox | Google Chrome | Above IE 7.0 version