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. 2015 Nov 18;2015:bcr2015210514. doi: 10.1136/bcr-2015-210514

Table 1.

Factors that differentiate cleidocranial dysplasia from rickets

Cleidocranial dysplasia Vitamin D resistant rickets
Family history Usually an autosomal dominant linkage Usually sex-linked dominant linkage
Dental findings
  1. Normal morphology of enamel and dentin

  2. Normal mineral content

  3. Normal size of pulp chamber

  4. Normal root outlines

  5. Normal supporting alveolar bone

  6. Normal maxillary/mandibular arches

  1. Altered morphology of enamel and dentin (defective shape and size)

  2. Hypomineralisation.

  3. Large pulp chambers.

  4. Short roots.

  5. Hypoplastic alveolus, especially evidence of poorly formed lamina dura.

  6. Hypoplastic of maxilla and mandible.

  7. Defective enamel and dentin with large pulp chambers lead to early pulpal involvement.

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

  • Hypomineralisation of bone

  • Evident costochondral swellings (rachitic rosary)

  • Splaying and cupping of metaphysis

  • Cranial synostoses

Histological findings Normal structure of enamel, dentin and bone
  • Tubular clefts are very commonly seen in dentin

  • Abnormal or deficient or coarse bony trabeculae

Laboratory findings Normal levels of calcium, phosphorous and vitamin D
  • Hypocalcaemia

  • Hypophosphataemia

  • Hypovitaminosis D