PubMed · 10454021
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J Errington. 1999. Facing the future.. https://doi.org/10.1054/bjom.1999.0067
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We describe a girl with a severe progressive type of osteogenesis imperfecta, in association with multisutural craniosynostosis, growth failure, and craniofacial findings including ocular proptosis, marked frontal bossing, midface hypoplasia, and micrognathia. Collagen analysis was normal. These features are consistent with the diagnosis of Cole-Carpenter syndrome. This report provides further evidence for the existence of this rare genetic entity.
Craniofacial surgery has developed its own identity in the last 3 decades. The Frenchman Tessier can be seen as the founding father. His concept of intracranial correction of craniofacial malformations is still valid today. There have been many new developments such as distraction osteogenesis and biodegradable miniplate fixation. Microvascular surgery and vascularised calvarial bone grafts help to obtain more predictable results. Three-dimensional CT imaging techniques and modelling result in better surgical planning and help to understand the underlying pathology. Biomolecular knowledge of gene mutations leads to better understanding of the clinical diagnosis. The future will bring minimalisation of surgery and more therapy focused on biomolecular science. The psychosocial welfare of the patient will play a central role in the multidisciplinary team treatment.