Prenatal diagnosis of a 7p15-p21 deletion encompassing the TWIST1 gene involved in Saethre–Chotzen syndrome

Saethre–Chotzen syndrome is a craniosynostosis syndrome that is rarely diagnosed prenatally. It is caused by cytogenetic deletions or mutations of the TWIST1 gene. We report here a de novo prenatal case with clinically and molecularly well defined Saethre–Chotzen syndrome due to a TWIST1 deletion. This is the first reported case of a deletion encompassing the TWIST1 gene to be diagnosed prenatally. We recommend screening for a deletion of the TWIST1 gene if signs of coronal craniosynostosis with no clear etiology are observed on ultrasound examination.

► We report the first de novo prenatal case of Saethre–Chotzen syndrome.
► Our patient, in addition to a craniosynostosis, has kidney and cardiac anomalies.
► We recommend screening for a deletion of 7p21 in case of coronal craniosynostosis.