Rare Diseases Symptoms Automatic Extraction

[Oral cavity features in patients suffering from osteogenesis imperfecta].

[dentinogenesis imperfecta]

Osteogenesis Imperfecta (OI) is a rare hereditary connective tissue disorder. This pathology is characterized by disruption of biosynthesis of Type I collagen, and production of limited amount of defective and imperfect collagens. This causes decrease in bone mass of human body, bones become fragile and brittle, resulting in unreasonable multiple fractures. Reportedly, number of patients with OI ranges between 32-38 in Georgia. However, exact number of patients, including children and their parents, is unknown. Dentinogenesis Imperfecta (DI; DGI) and skeletal malocclusion occupy special place in varied spectrum of OI clinical symptoms. We studied 14 patients: 9 women (64.3%), 5 men (35.7%) and divided them in three age groups: I - 2.5-6 years - period of primary dentition (28.6%), II - 6-14 years - period of changing teeth dentition (35.7%) and III - above 14 years - period of permanent dentition (35.7%). 28.5% of screened patients had one of the symptoms of DI, such as tooth discoloration. Discoloration of primary teeth was revealed in 4 patients (primary dentition). Another symptom of DI, such as early abrasion, was detected in 5 patients i.e. 35.71%. This was divided in the following manner: I age group - 3 cases, II and III age groups - 1-1 cases. It was also observed that early abrasion of primary teeth prevails over permanent. One of DI's radiographic symptoms, such as peculiar form of teeth crown and root, was revealed in 21.4% or in 3 patients, 2 of whom had bulbous crown, and the third one deformed (curved) root. Peculiar characteristics of DI, such as increased constriction of the coronal-radicular junction, obliterated pulp chamber, short and narrow roots, were not observed in the patients examined. Interesting characteristic of DI, such as periapical destruction of intact tooth root, was revealed in the form of bone defect in 7.1% of those examined (1 patient). Therefore, out of examined 14 patients with OI - DI had 6 patients or 42.85% of cases. Also, interesting observation was revealed - DI is more common in primary teeth (66.66%) than in permanent (33.33%). Radiographic examination - orthopantomography - revealed secondary osteoporosis of jaw bones in 100% of cases. Mucous tissue of examined patients is within normal range. Among examined patients, 1 case of adenty, 1 case of retention and 1 case of overcomplex tooth were revealed. According to current literature, it is unknown whether there is a lgical relationship between adenty, retention, overcomplex teeth and OI. This will be defined by future research.

Diseases presenting "bone mass" symptom

  • aromatase deficiency
  • dentin dysplasia
  • dentinogenesis imperfecta
  • familial hypocalciuric hypercalcemia

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