Aims-To describe the variation of the phenotype within families with several individuals with Bardet-Biedl syndrome. Methods-The phenotypes of aVected siblings in 11 Scandinavian families were compared with two or more members who had at least three of the features: retinal dystrophy, polydactyly, obesity, hypogenitalism, and mental retardation. Individuals without retinal dystrophy were excluded. Results-Intrafamilial variation of expressivity of the features obesity, polydactyly, abnormal radiograms of the extremities, hypogenitalism, short stature, paraplegia, and dental abnormalities was found. The retinal dystrophy varied with respect to both the onset of symptoms and the course of the disease. The morphology of the fundus, however, was consistent within the families. The disorder showed statistically significant genetic linkage to the BBS4 locus on chromosome 15 in the aVected siblings in two of the families, but the clinical features in these patients did not diVer from the other cases of Bardet-Biedl syndrome. Conclusion-Comparison of siblings with the Bardet-Biedl syndrome showed variation of the typical features. In addition, the course of retinal dystrophy varied. No distinctive clinical features were found to separate the BBS4 phenotype from the remaining patients. (Br J Ophthalmol 1997;81:378-385)

The intent of this study was to compare the inherent acid tolerance of bacteria in samples of dental plaque from tooth sites in subjects with and without initial caries. Plaque was collected from approximal surfaces showing early enamel caries and from healthy tooth surfaces in the same subjects, as well as from enamel surfaces of caries-free individuals. In addition to plating on blood agar, the plaque samples were plated directly on non-selective solid agar medium buffered to pH 7.0, 6.0, 5.5, 5.0, 4.5 and 4.0 to avoid any loss of adaptation to acid during primary isolation of plaque bacteria. The results showed that approximately 50% of the total cultivable plaque microbiota from caries, as well as healthy tooth sites, was able to grow at pH 5.5 and 1% at pH 5.0, pH values regarded as critical for the demineralization of tooth enamel. At pH 5.0, members of the genus Streptococcus were the dominant group, but mutans streptococci accounted for less than half of the streptococcal viable count. The other acid-tolerant streptococcal isolates included Streptococcus anginosus, Streptococcus constellatus, Streptococcus gordonii, Streptococcus intermedius, Streptococcus mitis, Streptococcus oralis,Streptococcus salivarius and Streptococcus sanguis. Analysis of the results indicated that the mutans streptococci in dental plaque were highly variable with respect to acid tolerance, and that both caries and healthy sites harboured significant numbers of mutans streptococci that were not acid-tolerant.

Objective: This study evaluated oral health-related quality of life (OHRQoL) in children and families before and after dental treatment under general anesthesia because of severe caries or molar-incisor hypomineralisation (MIH). Material and methods: A consecutive sample of the parents/caregivers of children (3-14 yr) in need of treatment under general anesthesia participated in the study. The children were divided into two groups: 3-6 yr and 7-14 yr. The 49-item questionnaire that was administered before and after general anesthesia comprised the Child Oral Health Quality of Life-components of the Parental-Caregivers Perception Questionnaire (P-CPQ), the Family Impact Scale (FIS), and two global questions concerning oral health and general well-being. The P-CPQ domains were Oral symptoms, Functional limitations, Emotional well-being, and Social well-being. The FIS items assessed impact on family life. Results: In both age groups, a significant decrease (p < 0.001) occurred in overall P-CPQ, and the Oral symptoms, Functional limitations, and Emotional limitations domains of the P-CPQ. Mean values for the Social well-being domain decreased significantly in the older (p < 0.05) but not the younger age group. Mean values for FIS decreased significantly in the younger (p < 0.001) and the older (p < 0.05) age groups. Conclusions: Dental treatment of severe caries or MIH, performed under general anesthesia, had an immediate effect on the oral health-related quality of life in the children in this study and a positive impact on the family situation.

This paper reports a clinical and roentgenological examination of the teeth, jaws and saliva of 29 Scandinavian individuals with Laurence-Moon-Bardet-Biedl (LMBB) syndrome, whose cardinal signs are retinal dystrophy, polydactyly, obesity, hypogenitalism and mental retardation. All subjects had at least three of these signs, including retinal dystrophy. Compared with normal subjects, the group had statistically significantly higher frequencies of hypodontia, small teeth and short roots. In addition, the saliva showed a buffering capacity higher than normal. In conclusion, there seem to exist disturbances of both dental and skeletal formation in the LMBB syndrome.