Family history |
Usually an autosomal dominant linkage |
Usually sex-linked dominant linkage |
Dental findings |
Normal morphology of enamel and dentin
Normal mineral content
Normal size of pulp chamber
Normal root outlines
Normal supporting alveolar bone
Normal maxillary/mandibular arches
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Altered morphology of enamel and dentin (defective shape and size)
Hypomineralisation.
Large pulp chambers.
Short roots.
Hypoplastic alveolus, especially evidence of poorly formed lamina dura.
Hypoplastic of maxilla and mandible.
Defective enamel and dentin with large pulp chambers lead to early pulpal involvement.
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Radiographic findings |
Presence of multiple impacted supernumerary teeth
Normal/hypomineralisation of bones
Hypoplasia/aplasia of acromial ends of clavicles
Hypoplasia of distal phalanges
Hypoplastic iliac wings, wide sacroiliac joint and pubic symphysis in hips
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Hypomineralisation of bone
Evident costochondral swellings (rachitic rosary)
Splaying and cupping of metaphysis
Cranial synostoses
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Histological findings |
Normal structure of enamel, dentin and bone |
|
Laboratory findings |
Normal levels of calcium, phosphorous and vitamin D |
Hypocalcaemia
Hypophosphataemia
Hypovitaminosis D
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