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Updated: Sep 15, 2026

Quantification of Orofacial Phenotypes in Xenopus
Published on: November 6, 2014
[Morphological accidents other than labio-maxillary clefts]
1Clinique de stomatologie et de chirurgie maxillo-faciale, Hôtel-Dieu, Nantes.
Abstract:
In neonates and infants facial and/or craniofacial involvement occurs in a large number of malformative syndromes the pathogenesis of which is obscure in most cases. This, added to clinical polymorphism, hinders all attempts at classification. However, chromosomal aberrations, as demonstrated by karyotype analysis, can be distinguished from other congenital conditions where the predominant site of the anomaly may help clinicians in their research. Thus, among congenital syndromes of probable genetic origin, the author studies those that are most frequent or most characteristic, i.e. craniostenosis (or craniofaciostenosis) with its neurocerebral risk; lesions that are predominant in the upper part of the face (osteochondrodysplasia, systematized neurocristopathies); lesions affecting mainly the lower part of the face (bilateral and unilateral mandibular lesions) and anomalies of the tongue. Among syndromes of epigenetic origin, only alcoholic embryofoetopathy is presented. Diagnosing such morphological accidents does not only suggest possible cranial and/or dentofacial therapeutic measures, sometimes applied at an early stage, but it also enables clinicians to inform, whenever possible, the parents on the potential genetic risk.
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