Open Access
Variable phenotypic expression of Apert syndrome in monozygotic twins
Author(s) -
Dap Matthieu,
BachSegura Pascale,
Bertholdt Charline,
Menzies Didier,
Masutti JeanPierre,
Klein Olivier,
PerdriolleGalet Estelle,
Lambert Laetitia,
Morel Olivier
Publication year - 2019
Publication title -
clinical case reports
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 0.21
H-Index - 9
ISSN - 2050-0904
DOI - 10.1002/ccr3.1915
Subject(s) - apert syndrome , medicine , variable expression , phenotype , clinical phenotype , monozygotic twin , syndactyly , diaphragmatic hernia , pediatrics , genetics , hernia , craniosynostosis , anatomy , gene , surgery , biology
Key Clinical Message 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.