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First‐Trimester Diagnosis of Agnathia‐Otocephaly Complex: A Series of 4 Cases and Review of the Literature
Author(s) -
Rodriguez Nadiezhda,
Casasbuenas Alexandra,
Andreeva Elena,
Odegova Natalia,
Wong Amy E.,
Sepulveda Waldo
Publication year - 2019
Publication title -
journal of ultrasound in medicine
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 0.574
H-Index - 91
eISSN - 1550-9613
pISSN - 0278-4297
DOI - 10.1002/jum.14759
Subject(s) - medicine , polyhydramnios , holoprosencephaly , obstetrics , pregnancy , fetus , first trimester , genetics , biology
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.