title: Coronal craniosynostosis and radial ray hypoplasia: a third report of Twist mutation in a 33 weeks fetus with diaphragmatic hernia.
abstract: 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.
authors.affiliation: Centre de Génétique Humaine, Centre Hospitalier Universitaire, Université de Franche-Comté, Besançon, France. juliette.piard@gmail.com
authors.forename: Juliette
authors.initials: J
authors.lastname: Piard
authors.forename: Corinne
authors.initials: C
authors.lastname: Collet
authors.forename: Francine
authors.initials: F
authors.lastname: Arbez-Gindre
authors.forename: Andriamisandrata
authors.initials: A
authors.lastname: Nirhy-Lanto
authors.forename: Lionel
authors.initials: L
authors.lastname: Van Maldergem
mesh_terms: D000015:Abnormalities, Multiple / Q000175:diagnosis / Q000235:genetics*; D000328:Adult; D003398:Craniosynostoses / Q000175:diagnosis / Q000235:genetics*; D005260:Female; D005333:Fetus / Q000002:abnormalities; D006548:Hernia, Diaphragmatic / Q000235:genetics*; D006801:Humans; D009154:Mutation; D010375:Pedigree; D010641:Phenotype; D011247:Pregnancy; D013577:Syndrome; D051879:Twist-Related Protein 1 / Q000235:genetics*
chemical_list: D051879:Twist-Related Protein 1