Cookies on this website
We use cookies to ensure that we give you the best experience on our website. If you click 'Continue' we'll assume that you are happy to receive all cookies and you won't see this message again. Click 'Find out more' for information on how to change your cookie settings.

Craniosynostosis, defined as the premature fusion of the cranial sutures, presents many challenges in classification and treatment. At least 20% of cases are caused by specific single gene mutations or chromosome abnormalities. This article maps out approaches to clinical assessment of a child presenting with an unusual head shape, and illustrates how genetic analysis can contribute to diagnosis and management.

Original publication

DOI

10.1038/ejhg.2010.235

Type

Journal article

Journal

Eur J Hum Genet

Publication Date

04/2011

Volume

19

Pages

369 - 376

Keywords

Child, Chromosome Aberrations, Cranial Sutures, Craniosynostoses, Ephrin-B1, Female, Genetic Counseling, Humans, Male, Mutation, Nuclear Proteins, Prenatal Diagnosis, Receptor, Fibroblast Growth Factor, Type 1, Receptor, Fibroblast Growth Factor, Type 2, Receptor, Fibroblast Growth Factor, Type 3, Risk Assessment, Tomography Scanners, X-Ray Computed, Twist-Related Protein 1