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Individual conditions grouped according to the international nosology and classification of genetic skeletal disorders*
Published in Christine M Hall, Amaka C Offiah, Francesca Forzano, Mario Lituania, Michelle Fink, Deborah Krakow, Fetal and Perinatal Skeletal Dysplasias, 2012
Christine M Hall, Amaka C Offiah, Francesca Forzano, Mario Lituania, Michelle Fink, Deborah Krakow
ATR-X: X-linked disorders, only males are affected with short stature, microcephaly, specific dysmorphic features (flat face, hypertelorism, epicanthic folds, depressed nasal bridge, macrostomia, small teeth, V-shaped upper lip), cryptorchidism, seizures. Haemoglobin H can be found in red blood cells. Coffin-Siris syndrome: rare recessive disorder characterised by microcephaly, coarse facial features, sparse scalp hair, hirsutism, microstomia, growth impairment, early feeding problems. Skeletal anomalies are not usually associated, except for fifth finger anomalies in hands and feet (from absent nails to absent digit). KBG: very rare, dominant disorder, with macrodontia of the upper central incisors, skeletal anomalies, namely block vertebrae, abnormal ribs, short femoral necks, broad and small hands. Partial duplication 3q: postnatal growth retardation, hirsutism, synophrys, low frontal hairline, microcephaly, cryptorchidism. Major malformations are very rare. Diagnosis is made through standard karyotyping.
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
The present results on mesiodistal tooth dimension in healthy 20-yr-old controls corroborate Townsend’s results from 1983 [22]. The age of twenty was chosen to match Townsend’s control group comprising 265 children and young adults [22]. Considering gender dimorphism, both studies show that women’s teeth in general are smaller than men’s teeth. This finding is in line with men exhibiting a higher frequency of hyperdontia and macrodontia than women, and women having a higher prevalence of microdontia and hypodontia than men [20]. The present gender difference (Table 3) is in the same order of magnitude as Townsend found [22], with women’s teeth being in average 2% smaller in the mesiodistal dimension compared to men’s teeth. Townsend made measurements on plaster models using a dial calliper [22] as compared to the present digital measurements on 3 D-models. A digital approach was chosen since a recent study has shown that measurements on digital models present with less variation than measurements on plaster models [23].
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].