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[ "https://i.postimg.cc/VvF083cq/case-212368-image-1-blue-sclera.jpg", "https://i.postimg.cc/1XSVbybR/case-212368-image-2-dent-oi.jpg" ]
Orthopedics
miscellaneous
osteomalacia
A 7-year-old girl is brought to a specialized pediatric clinic for ongoing management of a known genetic bone disorder. Her parents report a history of recurrent fractures since early childhood, including multiple long bone fractures and vertebral compression fractures, occurring with minimal or no discernible trauma. They also express concerns about her progressive hearing loss and the unusual blue discoloration of her sclera, as shown in Figure A. She frequently experiences dental chipping and discoloration, consistent with dentinogenesis imperfecta (Figure B). Despite a generally healthy appetite, her dietary intake is often limited to soft foods like cereal and pasta due to dental sensitivity. On physical examination, she appears well-nourished, but exhibits noticeable short stature for her age. Her temperature is 37.00C, blood pressure is 108/61 mmHg, pulse is 88/min, respirations are 18/min, and oxygen saturation is 98% on room air. Examination reveals bilateral blue sclera and significant dental abnormalities. Auscultation of the chest is unremarkable, and abdominal examination is soft and non-tender. Joint mobility is within normal limits, but there is evidence of healed deformities in the long bones. Given her clinical presentation and genetic predisposition, what is the most appropriate long-term management strategy and what potential complication should be monitored closely?
| Lab Parameter | Value | Reference Range |
|---|---|---|
| Calcium (total) | 2.4 mmol/L | 2.1-2.6 mmol/L |
| Phosphate | 1.5 mmol/L | 0.8-1.5 mmol/L |
| Alkaline Phosphatase | 180 U/L | 100-300 U/L |
| 25-hydroxyvitamin D | 65 nmol/L | 50-125 nmol/L |
| Parathyroid Hormone (PTH) | 3.5 pmol/L | 1.6-6.9 pmol/L |
| Hemoglobin | 125 g/L | 115-140 g/L |
| White Blood Cell Count | 7.5 x 10^9/L | 4.5-13.5 x 10^9/L |


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