Chromosomal disorders and oro-dental defects – prenatal diagnosis

A. Kozma, V. Rădoi, R. Ursu, A.D. Iordan-Dumitru, L.C. Bohîlţea

Rezumat: Genetic disorders can be classified as single gene inheritance, multifactorial inheritance, chromosome abnormalities and mitochondrial inheritance. Every congenital structural defect in the body represents an inborn error in morphogenesis and may affect one or more systems. Currently, craniofacial abnormalities can be detected by modern ultrasound examination as early as at 16 weeks of gestation. Several chromosomal disorders, numerical and structural as well, include oro-dental defects among their clinical symptomatology. The severity of these disorders vary widely from extremely severe to mild, but oral defects are present in all. Chromosomal disorders and syndromes often arise from numerical and structural defects of the chromosomes, leading to various manifestations, some of which also include the craniofacial region. Genetics and its understanding and applications enhance our ability to understand the growth and development of craniofacial structures, leading to the early intervention and prevention of disease onset. Knowledge of the genetic alterations that may cause oro-dental defects allows the genetic examination, the prenatal diagnosis and counselling of future parents with traits of oral cleft in the family.
Cuvinte cheie: oro-dental defects, prenatal diagnosis, chromosomal disorders.