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

Capobianco, Giampiero and Cherchi, Pier Luigi and Ambrosini, Guido and Cosmi, Erich and Andrisani, Alessandra and Dessole, Salvatore (2007) Alobar holoprosencephaly, mobile proboscis and trisomy 13 in a fetus with maternal gestational diabetes mellitus: a 2D ultrasound diagnosis and review of the literature. Archives of Gynecology and Obstetrics, Vol. 275 (5), p. 385-387. eISSN 1432-0711. Article.

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DOI: 10.1007/s00404-006-0264-6

Abstract

Background Alobar holoprosencephaly is a rare and severe brain malformation due to early arrest in brain cleavage and rotation. Case report 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/m2). 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 foots 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. Conclusion 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

Item Type:Article
ID Code:2326
Status:Published
Refereed:Yes
Uncontrolled Keywords:Trisomy 13, gestational diabetes mellitus, alobar holoprosencephaly
Subjects:Area 06 - Scienze mediche > MED/40 Ginecologia e ostetricia
Divisions:001 Università di Sassari > 01 Dipartimenti > Neuroscienze, scienze materno infantili
Publisher:Springer Berlin / Heidelberg
eISSN:1432-0711
Deposited On:18 Aug 2009 10:07

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