Extracranial anomalies of the common craniosynostosis syndromes
Anderson, Peter John
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This thesis describes the clinical and radiological investigations into the anomalies which occur extracranially in the four most common craniosynostosis syndromes eponymously named Crouzon, Pfeiffer, Apert and Saethre-Chotzen. The anomalies include fusions of various components of the skeleton as well as congenital skeletal malformations. However, a range of variable anomalies existed for each syndrome and overlap of clinical features between the syndromes was commonly observed.The cervical spine radiographs demonstrated anomalies at a higher incidence than previously published reports based on smaller samples for Pfeiffer and Saethre-Chotzen syndrome. However, the incidence of fusions in Crouzon syndrome was smaller. These results were partly due to the inclusion of atypical phenotypes whose diagnosis was assisted by D.N.A. analysis.The hands and feet demonstrated a wider range of anomalies, occurring at higher incidence, than previous reports for Crouzon, Pfeiffer and Saethre-Chotzen syndromes, and include new findings. Skeletal anomalies are present at other sites including the elbows, the shoulders, the pelvis, and the knees in Crouzon, Pfeiffer and Apert syndromes but not in Saethre-Chotzen syndrome.This study has identified sites of fixed and progressive extracranial anomalies present in each syndrome. The anomalies identified have been compared for the four syndromes studied and a comparison has been made where possible between the different genotypes within each syndrome, where these are known.This work highlighting the existence of a greater range of extracranial anomalies in these syndromes, will assist clinicians in the diagnosis and management of affected children. These findings are also of interest to Developmental Biologists who are investigating the complex biological processes in human development.