Phenotypic Overlap of Roberts and Baller-Gerold Syndromes in Two Patients With Craniosynostosis, Limb Reductions, and ESCO2 Mutations

Phenotypic Overlap of Roberts and Baller-Gerold Syndromes in Two Patients With Craniosynostosis, Limb Reductions, and ESCO2 Mutations

Baller-Gerold (BGS, MIM#218600) and Roberts (RBS, MIM#268300) syndromes are rare autosomal recessive disorders caused, respectively, by biallelic alterations in RECQL4 (MIM*603780) and ESCO2 (MIM*609353) genes. Common features are severe growth retardation, limbs shortening and craniofacial abnormal...

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Bibliographic Details
Main Authors: Elisa Adele Colombo, Hatice Mutlu-Albayrak, Yousef Shafeghati, Mine Balasar, Juliette Piard, Davide Gentilini, Anna Maria Di Blasio, Cristina Gervasini, Lionel Van Maldergem, Lidia Larizza
Format: Article
Language:English
Published: Frontiers Media S.A. 2019-05-01
Series:Frontiers in Pediatrics
Subjects:
Roberts syndrome
Baller-Gerold syndrome
RECQL4
ESCO2
patient management
genetic counseling
Online Access:https://www.frontiersin.org/article/10.3389/fped.2019.00210/full

Internet

https://www.frontiersin.org/article/10.3389/fped.2019.00210/full

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