First-Trimester Diagnosis of Agnathia-Otocephaly Complex: A Series of 4 Cases and Review of the Literature

Journal of Ultrasound in Medicine : Official Journal of the American Institute of Ultrasound in Medicine
Nadiezhda RodriguezW Sepulveda

Abstract

First-trimester ultrasound findings in 4 fetuses with agnathia-otocephaly complex are described. In addition, information from 3 cases reported in the literature was also reviewed, for a total of 7 cases analyzed. All 7 fetuses presented with agnathia and 6 with ventrocaudal displacement of the ears (melotia/synotia). Four fetuses had holoprosencephaly. In 6 cases, the parents opted for termination of pregnancy. The remaining case resulted in premature delivery at 26 weeks due to severe polyhydramnios and early neonatal death. This report highlights the important role of ultrasound in the identification of agnathia-otocephaly complex in the first trimester of pregnancy.

References

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Jun 17, 2003·Ultrasound in Obstetrics & Gynecology : the Official Journal of the International Society of Ultrasound in Obstetrics and Gynecology·M Teoh, S Meagher
Jul 13, 2004·Journal of Ultrasound in Medicine : Official Journal of the American Institute of Ultrasound in Medicine·Waldo SepulvedaCecilia Be
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Apr 6, 2011·Ultrasound in Obstetrics & Gynecology : the Official Journal of the International Society of Ultrasound in Obstetrics and Gynecology·R ChaouiK Karl
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Oct 31, 2015·The Journal of Craniofacial Surgery·Michael S GolinkoDavid A Staffenberg

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Citations

Jan 20, 2020·Prenatal Diagnosis·Sara H El-DessoukyGhada M H Abdel-Salam
Feb 27, 2020·Molecular Genetics & Genomic Medicine·Nicole MeierIsabel Filges

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