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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




Journal article


Eur J Hum Genet

Publication Date





369 - 376


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