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The major diagnostic manifestations in Sotos syndrome include frontal bossing, downward slanting palpebral fissures, a prominent jaw, learning disability, and childhood overgrowth. Over 90% of clinically diagnosed patients have an abnormality in the NSD1 gene. We investigated the dental manifestations of this disorder and found one or several premolar teeth were absent in 9 out of 13 (69%) affected children and adolescents. A heterozygous mutation in the NSD1 gene was identified in 12 patients, including all patients with hypodontia. The severity of the hypodontia seemed to increase with the severity of aberration of the NSD1. More than 50% of the patients had enamel defects or excessive tooth wear. Dental age, based on tooth formation, was within the normal range. A characteristic occlusion for Sotos syndrome could not be identified. As agenesis of premolars was a common feature in these patients affected with Sotos syndrome, we recommend panoramic radiography at the age of 7 years. If premolars are missing, proper preventive and restorative care is necessary to maintain the deciduous molars. © 2009 Wiley-Liss, Inc.

Cohen syndrome (Mendelian Inheritance in Man [MIM] no. 216550) is a rare, autosomal-recessive inherited disorder with mental retardation and a typical appearance. The condition is relatively common in Finland where 35 patients have been diagnosed. We studied 22 patients in detail, obtaining anthropometric measurements of the head and face, and cephalometric radiographs of 14 patients (14-57 years of age). Measurements of patients were compared to population norms and matched controls. Anthropometric analysis confirmed and quantified the previously described syndrome features: small head size [-4 standard deviations (SD)], with varying cephalic index. Width of the upper face was close to normal, but width of the lower face was small. Philtrum length was shorter than in healthy controls (p = 0.0039 in females and p = 0.0014 in males). The measurements from standardized radiographs revealed short cranial base dimensions (-2.2 and -2.6 SD), but normal cranial base angles. Prognathism of jaws was within normal limits. Reduced head size (microcephaly), short philtrum and small cranial base dimensions are essential features in Cohen syndrome. In addition, most patients had forward-inclined upper incisors and maxillary prognathia. We conclude that exact measurements mostly confirmed the Cohen syndrome description based previously on clinical impression.

We determined differences in the expression of certain virulence factors between oral Candida dubliniensis and Candida albicans species. In addition, clonal differences were sought among C. albicans isolates recovered from patients with and without compromised immune system. The material comprised 93 clinical yeast isolates originated in 40 subjects (1-5 isolates per subject). All 26 C. dubliniensis isolates and 46 C. albicans isolates originated from healthy routine dental clinic patients. Additionally, 21 C. albicans isolates were collected from patients with autoimmune polyendocrinopathy-candidosis-ectodermal dystrophy (APECED), who have chronic candidosis as one manifestation of their immunocompromising disease. Polymerase chain reaction amplification using the random sequence primer OPE-03 enabled grouping of the C. dubliniensis isolates in 2 genotypes (I and II) and C. albicans isolates in 15 genotypes (I-XV). No significant difference was found in the distribution of genotypes between the patients with APECED and the healthy subjects. C. dubliniensis isolates exhibited high-frequency phenotypic switching significantly more frequently than did C. albicans isolates, and vice versa regarding phospholipase and proteinase production. Proteinase production was significantly more frequent among C. albicans genotype V than genotype IX isolates. No significant difference was found in expression of virulence factors of C. albicans isolates between the patients with APECED and the healthy subjects.

In the present study, we collected a family series with short root anomaly in order to analyze the inheritance pattern of the condition. Another aim was to identify in these families an association with other dental anomalies, such as tooth agenesis, peg-shaped lateral incisors, supernumeraries, ectopia, and such morphological characteristics as invaginations, taurodontism, and a tendency to root resorption. Mesiodistal dimensions of the crowns of the affected teeth were measured in order to reveal any association with reduction or increase in tooth size. The apparent genetic heterogeneity of the pedigrees did not permit definitive conclusions as to the mode of inheritance. Autosomal dominant transmission of short root anomaly was seen in 3/8 families. In 2/8 families, the condition was seen in siblings but not in parents. An association with tooth agenesis and ectopic canines was noted, the prevalences of which were 46% and 33%, respectively. We stress the importance of not misdiagnosing this anomaly as resorption.

Diastrophic dysplasia (DTD) is a well characterized, recessively inherited osteochondrodysplasia. Forty-eight patients with DTD were studied for craniofacial characteristics. Of these patients, 58% had cleft palate. A cephalometric analysis based on lateral cephalograms was performed. We observed a short anterior cranial base, vertical nasal bones, short and posteriorly positioned upper and lower jaws, increased anterior facial height, increase in the sagittal length of the body of the cervical vertebrae, and an abnormal dens of the second cervical vertebra. DTDST, in which mutations responsible for the disease occur, is a gene that codes for a sulphate transporter membrane protein. The craniofacial anomalies in DTD most likely result from deficient development and growth of cartilaginous structures and are probably due to defective sulfation of the proteoglycans of the cartilage.

Despite its unequivocal advantages, breast feeding may be associated with undesired side-effects. Recently, we have shown an association between exposure via mother's milk to dioxins and developmental defects of the child's teeth. The present study was undertaken to analyze further the association between the duration of breast feeding and the occurrence of dental defects. For this purpose, 2 different populations were selected. The first population comprised 40 children who had mineralization defects in the permanent 1st molars, and their age-living area- and sex-matched controls. The median duration of breast feeding was 9 months in the affected children compared to 6 months in the controls. The defects were more extensive after prolonged breast feeding. The second population consisted of 97 children whose mothers had been encouraged to extensive and prolonged breast feeding. Of these children, 24 had mineralization defects. They all had been breastfed longer than 8 months. In both study populations mineralization defects were associated with the duration of breast feeding. The result suggests that long breast feeding may increase the risk of mineralization defects in healthy children, possibly because of environmental contaminants that interfere with tooth development.