Postnatal Onset of Craniosynostosis in a Case of Saethre-Chotzen Syndrome

Saethre-Chotzen syndrome is a craniosynostosis syndrome characterized by facial and limb abnormalities. It is caused by mutations in the TWIST gene on chromosome 7p21. To date, more than 80 different mutations in TWIST have been reported in the literature.Recently, large deletions of chromosome 7p, encompassing the TWIST locus, have been detected in patients with clinical features of Saethre-Chotzen syndrome. Strikingly, all these patients were severely mentally retarded, which is otherwise a rare finding in Saethre-Chotzen syndrome. The authors report a patient with a large TWIST/7p deletion but with normal development. Furthermore, craniosynostosis was not present at birth or at the age of 4 months. However, skull radiographs taken at the age of 14 months showed stenosis of both coronal sutures, as well as of part of the sagittal suture. Reports on postnatal onset of craniosynostosis have been made in Crouzon syndrome but, to the authors' knowledge, never in Saethre-Chotzen syndrome.