Variable phenotypic expression of Apert syndrome in monozygotic twins

Matthieu Dap; Pascale Bach-Segura; Charline Bertholdt; Didier Menzies; Jean-Pierre Masutti; Olivier Klein; Estelle Perdriolle-Galet; Laetitia Lambert; Olivier Morel

doi:10.1002/ccr3.1915

Variable phenotypic expression of Apert syndrome in monozygotic twins

Clin Case Rep. 2018 Nov 11;7(1):54-57. doi: 10.1002/ccr3.1915. eCollection 2019 Jan.

Authors

Matthieu Dap¹, Pascale Bach-Segura², Charline Bertholdt¹, Didier Menzies³, Jean-Pierre Masutti³, Olivier Klein⁴, Estelle Perdriolle-Galet¹, Laetitia Lambert⁵, Olivier Morel¹

Affiliations

¹ Department of Gynecology and Obstetrics CHRU de Nancy Nancy France.
² Department of Perinatal Radiology and Imaging CHRU de Nancy Nancy France.
³ Department of Fetopathology CHRU de Nancy Nancy France.
⁴ Department of Pediatric Neurosurgery CHRU de Nancy Nancy France.
⁵ Department of Clinical Genetic CHRU de Nancy Nancy France.

Abstract

Apert syndrome in monozygotic twins can lead to different phenotypic expression of the disease in the two fetuses. Apert syndrome can be associated with congenital left diaphragmatic hernia and cleft palate.

Keywords: Apert syndrome; congenital diaphragmatic hernia; craniosynostosis; fetal autopsy; fetal ultrasound; monozygotic twins.

Publication types

Case Reports