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' band 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.
Original language | English (US) |
---|---|
Pages (from-to) | 1081-1084 |
Number of pages | 4 |
Journal | Prenatal Diagnosis |
Volume | 17 |
Issue number | 11 |
DOIs | |
State | Published - Nov 1997 |
Keywords
- Apert syndrome
- PCR analysis
- Prenatal ultrasound
ASJC Scopus subject areas
- Genetics(clinical)
- Obstetrics and Gynecology