title: Prenatal ultrasonographic and molecular diagnosis of Apert syndrome.
abstract: 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.
authors.affiliation: Department of Obstetrics and Gynecology, Western Pennsylvania Hospital, Pittsburgh 15224, USA.
authors.forename: K
authors.initials: K
authors.lastname: Filkins
authors.forename: J F
authors.initials: JF
authors.lastname: Russo
authors.forename: S
authors.initials: S
authors.lastname: Boehmer
authors.forename: M
authors.initials: M
authors.lastname: Camous
authors.forename: K A
authors.initials: KA
authors.lastname: Przylepa
authors.forename: W
authors.initials: W
authors.lastname: Jiang
authors.forename: E W
authors.initials: EW
authors.lastname: Jabs
mesh_terms: D000168:Acrocephalosyndactylia / Q000175:diagnosis* / Q000000981:diagnostic imaging / Q000235:genetics; D000328:Adult; D005260:Female; D006801:Humans; D016133:Polymerase Chain Reaction; D011247:Pregnancy; D011261:Pregnancy Trimester, First; D012307:Risk Factors; D016216:Ultrasonography, Prenatal