[Autosomal chromosomes and anomalies of the oromaxillofacial area]

The study deals with genetic diseases due to anomalies in the number and structure of autosomal chromosomes associated with oro-facial malformations. Pertinent literature from 1980 and clinical cases for each defect were analyzed. By comparing clinical signs and symptoms with chromosome abnormalities it was possible to build an analytical diagram showing the prevalence of malformation exhibited by each anatomical oro-facial region (cranial, labial, palatal, nasal, ocular, dental, lingual region). A very high prevalence of malformation was assessed for lip-and-palate regions (78%). These region often shows "micro-signs" of cleft lip and/or palate (deep palatal vault, maxillary hypoplasia, congenitally missing upper central incisors) which may indicate the presence of a mildly expressed chromosome abnormality. The whole sample of autosomal chromosome abnormalities induce anomalies in structures lying along body and face mid-line. The phenotypic expression of such anomalies may be defective (cleft lip and/or palate), or excessive as well (excessive thickness of the lingual frenum, broadening of the nasal bridge).