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© Borgis - New Medicine 2/2020, s. 60-66 | DOI: 10.25121/NewMed.2020.24.2.60
Agnieszka Kozubska1, Danuta Chlebna-Sokół2, Elżbieta Jakubowska-Pietkiewicz3, Izabela Michałus3, Karolina Beska-Bartecka4, *Joanna Szczepańska5
The oral health status and dental treatment needs of children affected by osteogenesis imperfecta – part I
Stan jamy ustnej oraz stomatologiczne potrzeby lecznicze dzieci dotkniętych osteogenesis imperfecta
1Doctoral studies, Department of Paediatric Dentistry, Medical University of Łódź, Poland
Head of Department: Professor Joanna Szczepańska, MD, PhD
2University Pediatrics Center M. Konopnicka, Central Clinical Hospital of Medical University of Łódź, Poland
Head of Center: Dr n. med. Monika Domarecka
3Department of Paediatrics, Newborn Pathology and Metabolic Diseases of the Bones, Medical University of Łódź, Poland
Head of Department: Elżbieta Jakubowska-Pietkiewicz, MD, PhD
4Osteoporosis Treatment Center and other Metabolic Diseases of Bones in Children and Adolescent
Head of Center: Danuta Chlebna-Sokół, MD, PhD
5Department of Paediatric Dentistry, Medical University of Łódź, Poland
Head of Department: Professor Joanna Szczepańska, MD, PhD
Wstęp. Osteogenesis imperfecta jest to zespół uwarunkowanych genetycznie chorób tkanki łącznej powstałych na skutek mutacji najczęściej w genach kodujących kolagen typu I – COL1A1. Oprócz objawów ogólnoustrojowych występują także charakterystyczne zaburzenia w układzie stomatognatycznym.
Cel. Celem badania była ocena stanu uzębienia oraz stomatologicznych potrzeb leczniczych dzieci z wrodzoną łamliwością kości.
Materiały i metody. Przeprowadzenie ankiety obejmującej wywiad ogólnolekarski oraz stomatologiczny z rodzicami dzieci z OI. Wykonanie badania stomatologicznego uwzględniającego stan uzębienia, występowanie dentinogenesis imperfecta, ocena stopnia starcia wg współczynnika Broca, nieprawidłowości zgryzu, wartości wskaźnika puw/PUW.
Wyniki. Przebadano łącznie 62 osoby z wrodzoną łamliwością kości, w tym 32 chłopców i 30 dziewczynek. Najczęściej opisano prawidłowy okres wyrzynania zębów mlecznych – u 48 osób (77,42%) i zębów stałych – u 34 osób (82,93%). U większości pacjentów zaobserwowano nieprawidłowe nawyki higieniczne i żywieniowe. Dentinogenesis imperfecta zębów mlecznych i stałych najczęściej występowało w typie III OI. Uzyskane wartości wskaźnika puw/PUW dla badanych pacjentów z OI kształtowały się na znacznie niższym poziomie niż aktualne dane epidemiologiczne.
Wnioski. Pomimo złych nawyków żywieniowych i higienicznych oraz patologicznej budowy uzębienia pacjentów z OI, wskaźniki próchnicy u tych dzieci, w porównaniu z badaniami populacyjnymi odpowiednich grup wiekowych, kształtowały się na niskim poziomie.
Introduction. Osteogenesis imperfecta is an inherited disorder of the connective tissue. Which in most cases, is caused by mutations in the genes encoding collagen type I. Apart from clinical features, there are characteristic dental aberrations.
Aim. The purpose of this research was the assessment of the condition of teeth and therapeutic needs of children with the congenital brittle bone disease.
Material and methods. The questionnaires with patient’s parents, consisting medical history and dental history were performed. The intra-oral examination included the condition of the dentition, the presence of dentinogenesis imperfecta, malocclusion, the assessment of the attrition index and dmft/DMFT index.
Results. 62 patients with osteogenesis imperfecta were examined – 32 boys and 30 girls. There were normal eruption times of deciduous (48 patients – 77.42%) and permanent teeth (34 patients – 82.93%) reported in the majority of the patients with OI. In most cases bad eating and hygienic habits were observed. Dentinogenesis imperfecta in deciduous and permanent teeth was reported mostly in type III of OI. dmft/DMFT index among children with OI were low in comparison to the population studies of corresponding age groups.
Conclusions. Despite bad eating and hygienic habits as well as pathological structure of dentition of patients with the congenital brittle bone disease, caries index among these children were low in comparison to the population studies of corresponding age groups.

Osteogenesis imperfecta (OI) is a rare inherited disorder caused by mutations most often in genes encoding collagen type I – COL1A1 and COL1A2, or less frequently in genes encoding the proteins involved in the biosynthesis of collagen type I. It is inherited in an autosomal dominant manner, less often in autosomal recessive or associated with the chromosome X (1-3). There is no predilection for gender and race. It occurs at a frequency of 6-7/100,000 births. On “The list of the rare diseases known in Poland” it takes 290th place out of 410 (4-6).
The David Sillence’s (7) classification from 1979, distinguishes four types of OI. It was created on the basis of clinical and radiological symptoms (i.e. the severity of fractures and the deformations of the skeletal system, the color of sclerae, hearing disorders) and the method of inheritance (8). Children with this disorder are characterized by reduced bone mass and density, which makes them fragile. As a consequence, it leads to repeated fractures, inadequate to the strength of the injury, and deformation of the long bones. Patients with osteogenesis imperfecta may also experience growth disorders, laxity of joints and ligaments, and dental aberrations (1, 9).
The characteristic features of the stomatognathic system include dentinogenesis imperfecta type I (DGI), the presence of malocclusion, hipodontia, and ectopic eruption of permanent teeth. DGI affects both the deciduous and permanent dentition, however, more severe changes in the primary dentition. There are tooth color disorders (from brown to opalescent blue/gray). There is often the enamel loss as a result of abnormal dentin structure, exposing the dentin and its rapid abrasion to the gingival level (10-12). A significant abrasion can happen in a very short time. The studies of Levin et al. (13) and Schwartz and Tsipouras (14) show that enamel loss is not caused by an abnormal structure of the enamel-dentin junction, but by an abnormal structure of the dentin, therefore a fracture occurs at the junction of the mantle and peribasal dentin. The dentin, visualized through the enamel loss, is often shiny and hard, as a result of dentinal tubules’ obliteration. Radiological examination shows barrel-shaped crowns, thin and short roots, and obliterated pulp canals (12, 15).
The purpose of this research was the assessment of the condition of the teeth and therapeutic needs of children with the osteogenesis imperfecta.
Material and methods
In 2015-2018, 62 out of 163 patients with osteogenesis imperfecta of the Department of Paediatrics, Newborn Pathology and Metabolic Diseases of the Bones of the Central Clinical Hospital – University Center of Paediatrics in Łódź were examined. Children in age: 6 months to 18 years old were qualified for the study. The study was performed in all children being in the hospital, whose parents consented to an interview and clinical examination. Patients were divided into four groups on the base of the type of osteogenesis imperfecta, according to the Sillence classification (tab. 1).
Tab. 1. Distribution of patients by type of OI
The type of OINumber of boysNumber of girls Totality%
A questionnaire with the parent/legal guardian of the child, consisting of three parts – family, medical and dental history was conducted. The first part included questions about the patient’s personal data and the pregnancy. The medical history took into account the child’s previous and current diseases, data on the course of OI: type, age at which the disorder was diagnosed and the diagnosing manner (clinical diagnosis/genetic testing), the presence of OI in family members, the current systemic treatment, as well as accompanying general symptoms (number of bone fractures suffered by patients throughout their lives, body height, occurrence of hearing impairment, joint laxity). The correctness of body height was assessed on the basis of percentile grids (prepared on the basis of data representative for the population of children and adolescents in Poland). The data was obtained in the course of the implementation of OLAF and OLA projects coordinated by the Institute “Children’s Memorial-Health Center” in years 2007-2012 (16, 17).
The third part of the questionnaire included questions about the time of eruption of deciduous/permanent teeth and about hygienic and nutritional habits. The onset of primary tooth eruption before 5 months of age was classified as premature, and after 12 months as delayed. In the case of permanent teeth, there is premature eruption before the age of 5, and delayed after the age of 8, respectively. The physical examination was performed in the hospital and it concerned the assessment of systemic parameters characteristic of OI, such as the color of the sclera and the triangular shape of the face.
Then, the condition of the oral cavity was analyzed with the use of diagnostic instruments used in dentistry (mirror, dental probe) in artificial lighting in patients sitting with their head supported. The criteria of dental condition were based on WHO guidelines (18). Particular attention was paid to the presence of dentinogenesis imperfecta in deciduous and permanent dentition, tooth color, enamel structure and the degree of tooth abrasion, which were assessed using the four-stage Broc index (19). Grade 1 indicates the presence of wear shields. The second degree is the exposed dentin islets. The large visible surface of the dentin is described as grade III. Stage IV is the reduction of the tooth crown due to abrasion. The level of dmft/DMFT index was calculated, no radiographs were taken. The occurrence of malocclusion was analyzed.
A total of 62 people with osteogenesis imperfecta were examined, including 32 boys and 30 girls. The most numerous group were patients with type I of osteogenesis imperfecta, followed by type III, IV, and only two patients with lethal type II were examined. The correct period of primary tooth eruption was described in 48 people (77.42%), premature eruption in 9 (14.52%), and delayed in 5 (8.06%). The eruption of permanent teeth on time was found in 34 patients (82.93%), premature in 4 (9.76%), delayed in 3 (7.32%) (tab. 2).
Tab. 2. The beginning of the eruption of deciduous and permanent teeth in different types of OI
The type of dentitionThe beginning of the eruptionType IType IIType IIIType IVTotal n/%
Primarybefore 5. month40419/14.52
in 6.-11. month221121348/77.42
after 12. month01405/8.06
Permanentbefore 5. year1304/9.76
in 6.-7. year178934/82.93
after 8. year0123/7.32

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otrzymano: 2020-04-29
zaakceptowano do druku: 2020-05-20

Adres do korespondencji:
*Joanna Szczepańska
Zakład Stomatologii Wieku Rozwojowego Uniwersytet Medyczny w Łodzi
ul. Pomorska 251, 92-213 Łódź
tel.: +48 (42) 675-75-16

New Medicine 2/2020
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