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Title: Extracranial anomalies of the common craniosynostosis syndromes
Author: Anderson, Peter John
Awarding Body: University of Edinburgh
Current Institution: University of Edinburgh
Date of Award: 1998
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The craniosynostoses are a group of aetiologically and pathogeneticaly heterogeneous disorders that may occur in association with other anomalies of the limbs or viscera in over one hundred different syndromes. The four most common craniosynostosis syndromes are Crouzon, Pfeiffer, Apert and Saethre-Chotzen. The rarity of these conditions together with variations in the phenotypic appearance has restricted detailed study of each syndrome. This thesis describes the clinical and radiological investigations of the extracranial anomalies in the four most common craniosynostosis syndromes. Populations were identified by phenotypic appearance and where possible the diagnosis was confirmed by D.N.A. analysis. This study has identified sites of fixed and progressive anomalies for each syndrome. Fusions of the skeleton as well as congenital skeletal malformations were observed. The range of anomalies for each syndrome was compared to the anomalies present in the three other syndromes. Also a comparison was made of the anomalies produced by different mutations within the same syndrome. The cervical spine radiographs showed a higher incidence of anomalies than previously reported for Pfeiffer and Saethre-Chotzen syndromes. In contrast, the incidence of fusions in Crouzon syndrome was lower. These results probably reflect the method of identification of cases used in this study, where atypical phenotypes were only included after D.N.A. analysis. The hands and feet showed a wider range of anomalies, at a higher incidence, than previous reports for Crouzon, Pfeiffer and Saethre-Chotzen syndromes. The extracranial skeleton is affected by anomalies at other sites, especially the elbows, the shoulders, the pelvis and the knees in Crouzon, Pfeiffer and Apert syndromes, but not in Saethre-Chotzen syndrome. This work highlights the existence of a greater range of extracranial anomalies in these syndromes than previously reported. Apart from assisting clinicians involved with the management of children with these syndromes, these findings will be of interest to developmental biologists who are investigating the complex biological processes in human development.
Supervisor: Not available Sponsor: Not available
Qualification Name: Thesis (M.D.) Qualification Level: Doctoral
EThOS ID:  DOI: Not available