[Morphological accidents other than labio-maxillary clefts]. 1991

J Mercier
Clinique de stomatologie et de chirurgie maxillo-faciale, Hôtel-Dieu, Nantes.

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.

UI MeSH Term Description Entries
D007223 Infant A child between 1 and 23 months of age. Infants
D011247 Pregnancy The status during which female mammals carry their developing young (EMBRYOS or FETUSES) in utero before birth, beginning from FERTILIZATION to BIRTH. Gestation,Pregnancies
D002675 Child, Preschool A child between the ages of 2 and 5. Children, Preschool,Preschool Child,Preschool Children
D002869 Chromosome Aberrations Abnormal number or structure of chromosomes. Chromosome aberrations may result in CHROMOSOME DISORDERS. Autosome Abnormalities,Cytogenetic Aberrations,Abnormalities, Autosome,Abnormalities, Chromosomal,Abnormalities, Chromosome,Chromosomal Aberrations,Chromosome Abnormalities,Cytogenetic Abnormalities,Aberration, Chromosomal,Aberration, Chromosome,Aberration, Cytogenetic,Aberrations, Chromosomal,Aberrations, Chromosome,Aberrations, Cytogenetic,Abnormalities, Cytogenetic,Abnormality, Autosome,Abnormality, Chromosomal,Abnormality, Chromosome,Abnormality, Cytogenetic,Autosome Abnormality,Chromosomal Aberration,Chromosomal Abnormalities,Chromosomal Abnormality,Chromosome Aberration,Chromosome Abnormality,Cytogenetic Aberration,Cytogenetic Abnormality
D005145 Face The anterior portion of the head that includes the skin, muscles, and structures of the forehead, eyes, nose, mouth, cheeks, and jaw. Faces
D005260 Female Females
D005315 Fetal Diseases Pathophysiological conditions of the FETUS in the UTERUS. Some fetal diseases may be treated with FETAL THERAPIES. Embryopathies,Disease, Fetal,Diseases, Fetal,Embryopathy,Fetal Disease
D006801 Humans Members of the species Homo sapiens. Homo sapiens,Man (Taxonomy),Human,Man, Modern,Modern Man
D025063 Chromosome Disorders Clinical conditions caused by an abnormal chromosome constitution in which there is extra or missing chromosome material (either a whole chromosome or a chromosome segment). (from Thompson et al., Genetics in Medicine, 5th ed, p429) Autosomal Chromosome Disorders,Chromosome Abnormality Disorders,Chromosomal Disorders,Autosomal Chromosome Disorder,Chromosomal Disorder,Chromosome Abnormality Disorder,Chromosome Disorder,Chromosome Disorder, Autosomal,Chromosome Disorders, Autosomal,Disorder, Chromosomal,Disorder, Chromosome,Disorder, Chromosome Abnormality,Disorders, Chromosomal,Disorders, Chromosome

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