Anomalies in the permanent dentition and other oral findings in 29 individuals with Laurence‐Moon‐Bardet‐Biedl syndrome

Borgström, Margareta Krasse; Riise, Ruth; Törnqvist, Kristina; Granath, Lars

doi:10.1111/j.1600-0714.1996.tb00198.x

Cited by 27 publications

(34 citation statements)

References 11 publications

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“…Examination of the teeth showed higher frequencies of small teeth, hypodontia (congenitally missing teeth), and short roots 24. In family VII hypodontia was found in both affected males (Fig 8) but not in the affected sister.…”

Section: Resultsmentioning

confidence: 93%

“…We can therefore not confirm the results of Carmi and coworkers,30 who suggested that mutations at the BBS4 locus result in post axial polydactyly predominantly of the upper limbs. Dental anomalies and brachydactyly were common findings, but these features are generally noted in BBS patients,11 24and therefore do not contribute to the clinical characterisation of the chromosome 15 type.…”

Section: Discussionmentioning

confidence: 97%

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Intrafamilial variation of the phenotype in Bardet-Biedl syndrome

Riise

Andréasson

Borgström

et al. 1997

British Journal of Ophthalmology

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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)

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Section: Resultsmentioning

confidence: 93%

Section: Discussionmentioning

confidence: 97%

Intrafamilial variation of the phenotype in Bardet-Biedl syndrome

Riise

Andréasson

Borgström

et al. 1997

British Journal of Ophthalmology

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“…Short-root anomaly can also appear after chemotherapy for childhood malignancies in the craniofacial region (Jaffe et al, 1984;Sonis et al, 1990) and in total body irradiation (Näsman et al, 1997). The root shortening has also been observed in individuals with disorders such as scleroderma (Foster & Fairburn, 1968), Stevens-Johnson syndrome (Thornton & Worley, 1991), Down syndrome (PrahlAndersen & Oerlemans, 1976), Laurence-MoonBardet-Biedl syndrome (Borgströ m et al, 1996), Aarskog syndrome (Aarskog, 1970) and dwarfism (Tsuchiya et al, 1981). Some authors associate shortness of the roots with other dental anomalies, such as tooth agenesis (Brook & Holt, 1978;Edwards & Roberts, 1990), dens invaginatus (Edwards & Roberts, 1990), supernumerary teeth (Lerman & Gold, 1977) and generalised microdontia (Brook & Holt, 1978;Edwards & Roberts, 1990).…”

Section: Discussionmentioning

confidence: 95%

A case of short‐root anomaly in a female from medieval Istria

Šikanjić¹,

Meštrović²

2006

Intl J of Osteoarchaeology

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Dental examination of a young female skeleton from medieval Istria revealed very short-roots of both maxillary central incisors. This developmental pathological condition is known in the literature as short-root anomaly, occurring mostly in maxillary incisors. In affected teeth, the crown:root ratio is 1:1.6. Although the prevalence of this condition has been reported in modern populations, this appears to be the first documented case of the anomaly from the medieval period. Unfortunately, fragmentary preservation of the skeletal material prevents us from making a full diagnosis of possible aetiology.

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“…The affected individuals suffer from crowding of the teeth, dental extractions, enamel hypoplasia, and micrognathia (Beales et al 1999). Furthermore, hypodontia, small teeth, and short roots (Borgström et al 1996) or taurodontism (Andersson et al 2013) were observed in human patients. Recently, a single central upper incisor was described in Bbs3 -/-mouse (Kawasaki et al 2016).…”

Section: Ciliopathy Syndromes With Dental Phenotypementioning

confidence: 99%

“…Among other craniofacial defects, dental anomalies are common in BBS (Borgström et al 1996). The affected individuals suffer from crowding of the teeth, dental extractions, enamel hypoplasia, and micrognathia (Beales et al 1999).…”

Section: Ciliopathy Syndromes With Dental Phenotypementioning

confidence: 99%

Role of Primary Cilia in Odontogenesis

et al. 2017

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Primary cilium is a solitary organelle that emanates from the surface of most postmitotic mammalian cells and serves as a sensory organelle, transmitting the mechanical and chemical cues to the cell. Primary cilia are key coordinators of various signaling pathways during development and maintenance of tissue homeostasis. The emerging evidence implicates primary cilia function in tooth development. Primary cilia are located in the dental epithelium and mesenchyme at early stages of tooth development and later during cell differentiation and production of hard tissues. The cilia are present when interactions between both the epithelium and mesenchyme are required for normal morphogenesis. As the primary cilium coordinates several signaling pathways essential for odontogenesis, ciliary defects can interrupt the latter process. Genetic or experimental alterations of cilia function lead to various developmental defects, including supernumerary or missing teeth, enamel and dentin hypoplasia, or teeth crowding. Moreover, dental phenotypes are observed in ciliopathies, including Bardet-Biedl syndrome, Ellis-van Creveld syndrome, Weyers acrofacial dysostosis, cranioectodermal dysplasia, and oral-facial-digital syndrome, altogether demonstrating that primary cilia play a critical role in regulation of both the early odontogenesis and later differentiation of hard tissue-producing cells. Here, we summarize the current evidence for the localization of primary cilia in dental tissues and the impact of disrupted cilia signaling on tooth development in ciliopathies.

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Anomalies in the permanent dentition and other oral findings in 29 individuals with Laurence‐Moon‐Bardet‐Biedl syndrome

Cited by 27 publications

References 11 publications

Intrafamilial variation of the phenotype in Bardet-Biedl syndrome

Intrafamilial variation of the phenotype in Bardet-Biedl syndrome

A case of short‐root anomaly in a female from medieval Istria

Role of Primary Cilia in Odontogenesis

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