Abstract
We report on a consanguineous family with three pregnancies affected with Fraser syndrome. We note severe brachydactyly is a manifestation of Fraser syndrome and found a novel homozygous splice site variation c.3293-2A>T in FRAS1. We would like to highlight variable manifestations of Fraser syndrome and the presence of oligohydramnios in the antenatal period often makes prenatal diagnosis clinically challenging.
Original language | English |
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Pages (from-to) | 83-85 |
Number of pages | 3 |
Journal | Congenital Anomalies |
Volume | 57 |
Issue number | 3 |
DOIs | |
Publication status | Published - 01-05-2017 |
All Science Journal Classification (ASJC) codes
- Pediatrics, Perinatology, and Child Health
- Embryology
- Developmental Biology