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Prenatal ultrasonographic and molecular diagnosis of apert syndrome

โœ Scribed by Karen Filkins; Joseph F. Russo; Susan Boehmer; Marianne Camous; Kelly A. Przylepa; Wen Jiang; Ethylin Wang Jabs

Publisher
John Wiley and Sons
Year
1997
Tongue
English
Weight
97 KB
Volume
17
Category
Article
ISSN
0197-3851

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โœฆ Synopsis

Apert syndrome is a rare craniosynostosis syndrome with significant bilateral syndactyly of the hands and feet. Usually it is detected by ultrasonography during the third trimester unless there is a family history. We present an interesting sporadic case with features consistent with Apert syndrome detected as early as the first trimester. A first-trimester ultrasound evaluation prior to chorionic villus sampling (CVS) for maternal age 41 was within normal limits except for the suggestion of a 'mitten-like' hand and proximally placed thumb. Mid-trimester ultrasound was not diagnostic; however, following the development of polyhydramnios in the third trimester, the evaluation of the digits and facial features were strongly suggestive of Apert syndrome. Amniocentesis was performed and a molecular diagnosis of Apert syndrome was made and confirmed on cord blood. 1997 by John Wiley & Sons, Ltd.

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