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  • Title: Apert's syndrome: cephalometric evaluation and considerations on pathogenesis.
    Author: Avantaggiato A, Carinci F, Curioni C.
    Journal: J Craniofac Surg; 1996 Jan; 7(1):23-31. PubMed ID: 9086898.
    Abstract:
    Apert's syndrome is a malformation characterized by abnormalities in the cranial vault, midfacial malformations, and syndactylia. The present study analyzes the lateral and frontal projections of the teleradiograms from five patients. Data were taken on the skeletal features and an attempt was made to interpret them in terms of functional matrices. We have used cephalometry as a descriptive device although the intent was also to use it to provide a perspective on the pathogenetic data derived from the literature. The hypothesis analyzed is that from the outset of craniofacial pathogenesis there may be a primitive alteration of the cartilaginous template from which are derived endochondral bones. The progressive involvement of the synchondrosis of the cranial base is subsequently transmitted to the membranous structures of the vault and face through the coronal ring and lambdoid suture systems. Although the data gained do not actually confirm this hypothesis, they do provide further support for it.
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