Coronal craniosynostosis and radial ray hypoplasia: A third report of Twist mutation in a 33 weeks fetus with diaphragmatic hernia

We describe a multiple malformation syndrome comprising coronal craniosynostosis, unilateral radial ray hypoplasia and diaphragmatic hernia in a 33w female fetus born to a 46 y-old male with an alleged personal and family history of Crouzon syndrome. By identifying an already described c.445C>T TWIST missense mutation, we were able to reassign the diagnosis of the family condition to Saethre-Chötzen syndrome. The present report illustrates clinical variability of a dominantly inherited TWIST mutation and provides a third example of Baller-Gerold/Saethre-Chötzen overlapping phenotype. We also add diaphragmatic hernia in the spectrum of TWIST-related malformations, although we couldn't prove the co-occurrence is not coincidental.

► We describe a fetus with Baller-Gerold phenotype and diaphragmatic hernia. ► Father had a family history of Crouzon syndrome, reassigned to Saethre-Chötzen syndrome. ► We illustrate the clinical variability of a dominantly inherited TWIST mutation. ► We add diaphragmatic hernia in the spectrum of TWIST-related malformations. ► We provide a third example of Baller-Gerold/Saethre-Chötzen overlapping phenotype