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Oral and craniofacial disorders
Published in Angus Clarke, Alex Murray, Julian Sampson, Harper's Practical Genetic Counselling, 2019
The most common of the defects of dentine is dentinogenesis imperfecta. This may occur in isolation, inherited in an autosomal dominant pattern, or in the various forms of osteogenesis imperfecta. The teeth are opalescent with an amber or grey colour. The teeth may be subject to attrition and chipping, most probably due to fractures within the dentine. Dentinogenesis imperfecta occurring alone is determined by the DSPP gene on 4q. When associated with osteogenesis imperfecta, there may be more variation in the severity of involvement, with some teeth being clinically normal, although radiographically and histologically they may show abnormalities.
Radiological Mimickers of Physical Child Abuse
Published in B. G. Brogdon, Tor Shwayder, Jamie Elifritz, Child Abuse and Its Mimics in Skin and Bone, 2012
B. G. Brogdon, Tor Shwayder, Jamie Elifritz
Type I OI is most common and is a dominantly inherited, generalized connective tissue disorder characterized mainly by bone fragility and blue sclerae. The collagen structure is normal, but the amount is less than normal. Osseous deformities are least severe in type I disease. Two thirds of patients develop dentinogenesis imperfecta with yellow or brown discoloration of the teeth, enamel fractures of the frontal incisors, and x-ray evidence of bell-shaped crowns and wide pulp chambers.53 Hearing impairment occurs secondary to otosclerosis in up to 50% of patients. Other classic features include easily bruised skin, moderate joint hypermobility, and kyphoscoliosis. This is the type that may be confused with physical abuse.
Reduced mesiodistal tooth dimension in individuals with osteogenesis imperfecta: a cross-sectional study
Published in Acta Odontologica Scandinavica, 2021
L. Staun Larsen, K. J. Thuesen, H. Gjørup, J. D. Hald, M. Væth, M. Dalstra, D. Haubek
In addition to OI, some individuals are diagnosed with dentinogenesis imperfecta (DI) as part of the same genetic disorder. A diagnosis of DI is established clinically by a characteristic greyish-blue to brown discolouration (opalescent) as well as pulp obliterations of the teeth [7,8]. The discolouration is due to the underlying affected dentine only, though, the enamel is fragile given this abnormality. Structurally, dentine is composed of hydroxyapatite crystals and an organic phase composed almost entirely of collagen type-1 and water. Depending on the impact of DI, the impaired collagen may affect the outer contours of the tooth and the dimension of the tooth crown. Furthermore, malocclusion in terms of mandibular overjet and open bite is a common trait in patients with OI [9–12]. In a recent study, individuals with OI were shown to have more severe malocclusions than a control group, including a potential increased risk of crowding of maxillary incisors [13]. Previous studies have demonstrated crowding in the dental arches to be positively correlated with mesiodistal dimension of teeth [14–17]. Thus, it might be hypothesised that the mesiodistal dimension of teeth is increased in patients with OI, compared to healthy individuals. This is in contradiction to the hypothesised reduced tooth dimension due to the impaired collagen. Potentially, deviations in dimension might have restorative implications.
Clinical management of fusion in primary mandibular incisors: a systematic literature review
Published in Acta Odontologica Scandinavica, 2020
Sara Bernardi, Serena Bianchi, Guglielmo Bernardi, Jörg Philipp Tchorz, Thomas Attin, Elmar Hellwig, Lamprini Karygianni
Tooth anomalies are a class of dental disorders affecting the dental teeth both in primary and permanent dentition [1]. The aetiology of dental anomalies has not been fully understood yet. However, environmental and genetic factors can be considered as basic contributors to the manifestation of dental anomalies [2–4]. Based on their type, they can be distinguished in anomalies in structure (amelogenesis imperfecta, dentinogenesis imperfecta, enamel hypoplasia), anomalies in number (hypodontia, hyperodontia), anomalies in size (microdontia, macrodontia), anomalies in eruption (transposistion, delayed or anticipated timing of eruption), and anomalies in shape (concrescence, gemination, fusion, dilaceration, double teeth) [5,6].
Dental and dentoalveolar dimensions in individuals with osteogenesis imperfecta
Published in Acta Odontologica Scandinavica, 2021
Janna Waltimo-Sirén, Henri Tuurala, Ella Säämäki, Petteri Holst, Marjut Evälahti, Heidi Arponen
Oral manifestations of OI include the classic finding of dentinal abnormality (‘dentinogenesis imperfecta, DI’), impaction and missing of teeth, abnormal eruption development, and relative mandibular prognathism [2,3,10,11]. The latter seems to be related to vertically small jaws and consequent anterior growth rotation of the lower jaw [10]. The quality of life of patients with OI may be impaired by aesthetic and, especially, functional concerns related to both DI and malocclusions, typically reverse overjet, posterior crossbite and open bite [12,13]. The aetiological sequences behind these occlusal features are only partly understood.