A progressive and complex clinical course in two family members with ERF-related craniosynostosis: a case report

A progressive and complex clinical course in two family members with ERF-related craniosynostosis: a case report

Abstract Background ERF-related craniosynostosis are a rare, complex, premature trisutural fusion associated with a broad spectrum of clinical features and heterogeneous aetiology. Here we describe two cases with the same pathogenic variant and a detailed description of their clinical course. Case p...

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Bibliographic Details
Main Authors: Izabella Körberg, Daniel Nowinski, Marie-Louise Bondeson, Malin Melin, Lars Kölby, Eva-Lena Stattin
Format: Article
Language:English
Published: BMC 2020-05-01
Series:BMC Medical Genetics
Subjects:
ERF
Craniosynostosis
Intracranial hypertension
Online Access:http://link.springer.com/article/10.1186/s12881-020-01015-z

Internet

http://link.springer.com/article/10.1186/s12881-020-01015-z

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