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PubMed1997

Developmental enamel defects in tuberous sclerosis: a clinical genetic marker?

Ten probands with tuberous sclerosis (TS) and 20 first degree relatives were examined for evidence of pitted enamel hypoplasia; 100% of TS patients had pitting, compared to 65% of relatives and 72% of 25 controls. We found that 70% of TS cases had more than 14 pits per person compared with only 5% of relatives and 4% of controls; 85% of relatives and 84% of controls had fewer than six pits per person. Our results confirm that significantly increased numbers of dental enamel pits are found in persons with TS compared to controls. These results suggest that examination for the presence or absence of dental enamel pits is not a useful screening test for first degree relatives to detect otherwise unsuspected subjects with tuberous sclerosis. However, the lack of pits in first degree relatives in our study is probably largely because none of the relatives appeared to carry the TS gene.

Dental Enamel↗
PubMed1984

Distribution of enamel defects and the association with respiratory distress in very low birthweight infants.

Although dental defects have long been observed among surviving pre-term infants, only few systematic studies address this problem. In a clinic limited to recall of infants of very low birthweight (less than 1.5 kg), enamel hypoplasia of primary incisors was found in 14/67 (21%) children, and enamel opacities were found in an additional 31% of the children. In contrast, enamel hypoplasia and opacities were found in 4% and 22%, respectively, of a control group of 46 normal birthweight children. The difference was significant (p less than 0.05) for the hypoplasia but not for the opacities. Primary incisor enamel hypoplasia was more commonly noted in maxillary central incisors than in lateral incisors (X2 = 28.0, p less than 0.01). Furthermore, hypoplasia was more common in maxillary incisors than in mandibular incisors (X2 = 48.4, p less than 0.01). In infants with dental defects, there was no significant correlation with pregnancy risk factors, gestational age, birthweight, septicemia, first-week caloric intake, serum bilirubin, or calcium. Infants with enamel hypoplasia were more likely, however, to have severe respiratory distress syndrome (X2 = 7.2, p less than 0.01), than infants with unaltered enamel. Central incisor edge involvement may indicate post-natal processes and/or a systemic disturbance extending back to the middle trimester of pregnancy.

Child, Preschool↗