Article
Craniosynostosis is a feature of CHD7-related CHARGE syndrome.
American journal of medical genetics. Part A - 1 Jul 2021
De Luca Chiara, Picone Simonetta, Cassina Matteo, Marziali Simone, Morlino Silvia, Camerota Letizia, Tamburrini Gianpiero, Castori Marco, Paolillo Piermichele, Salviati Leonardo, Brancati Francesco
Abstract excerpt
CHARGE syndrome is a rare genetic multiple-malformation disorder characterized by wide phenotypic variability. It is often caused by heterozygous variants in CHD7 and, more rarely, SEMA3E. Although craniofacial alterations are frequent in this condition, to date craniosynostosis is not considered part of the clinical spectrum. Here, we report bi-coronal craniosynostosis in a newborn affected by CHARGE syndrome...
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