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Prenatal molecular diagnosis for Apert syndrome

โœ Scribed by H. Osada; J. Ishii; S. Sekiya


Book ID
118531083
Publisher
Elsevier Science
Year
1996
Tongue
English
Weight
140 KB
Volume
55
Category
Article
ISSN
0020-7292

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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

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Apert syndrome (AS) is clinically characterized by typical facial features and symmetrical syndactyly of the digits. AS is inherited as an autosomal dominant trait. Recently, a fibroblast growth factor receptors 2 (FGFR2) mutation, either C934G or C937G, was identified in exon IIIa. Our report docum

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A 35-year-old Taiwanese woman visited us for prenatal evaluation in the 20th week of pregnancy. Both clinical observation of the mother and analysis of maternal DNA indicated a diagnosis of Apert syndrome. Sonographic examination of the fetus demonstrated ยฎndings that were consistent with this diagn