Rare Diseases Symptoms Automatic Extraction

Assessment of osteoporotic alterations in achondroplastic patients: a case series.

[achondroplasia]

Achondroplasia (ACH) is the most common form of human dwarfism and has been associated with biochemical alterations of the bone tissue, also observed in cases of osteoporosis. The present case series aimed at assessing low bone density, diagnosed with spinal bone mineral density (BMD) analysis and with panoramic radiograph measurements, in ACH patients. Spinal BMD was measured by means of dual-energy X-ray absorptiometry at the lumbar region (L1-L4). On dental panoramic radiographs of the patients, the mandibular cortical width was measured separately on the right and left sides. The Klemetti Index was also assigned as appropriate for evaluating the cortical area below the mandibular foramen. Additional parameters such as patient age, gender, body mass index, and number of teeth were also recorded. BMD results showed that 5/11 cases presented with skeletal osteopenia/osteoporosis diagnoses. Additionally, mandibular cortical erosion was detected in panoramic radiographs in 8/11 cases. The BMD and panoramic radiographic alterations found in this study suggest that the diagnosis of low bone density may have a special clinical relevance in cases of bone tissue disorders, such as achondroplasia.

Diseases presenting "bone density" symptom

  • achondroplasia
  • aromatase deficiency
  • congenital adrenal hyperplasia
  • cutaneous mastocytosis
  • erdheim-chester disease
  • fabry disease
  • familial hypocalciuric hypercalcemia
  • kallmann syndrome

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