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Symptoms: Short limbs, normal axial skeletal Lab Values: Pathophysiology: Constitutive activation of fibroblast growth factor receptor (FGFR3) actually inhibits chondrocyte proliferation. > 85% of mutations occur sporadically and are associated with advanced paternal age, but the condition also demonstrates autosomal-dominant inheritance. Common cause of dwarfism. Treatment:
Symptoms: Postmenopausal woman. Vertebral crush fractures, femoral neck fracture, distal radius (Colles') fractures. Lab Values: Decreased bone mass. Normal serum calcium, phosphate, alkaline phosphatase, PTH. Pathophysiology: Reduction of primarily trabecular (spongy) bone mass in spite of normal bone mineralization. Treatment: Estrogen and/or calcitonin; bisphosphonates or pulsatile PTH for severe cases. Glucocorticoids are contraindicated.
Symptoms: Failure of normal bone resorption leads to dense bones that are prone to fracture. Decrease in marrow space leads to anemia, thrombocytopenia, infection. Can result in cranial nerve impingement and palsies due to narrowed foramina. Frontal bossing of the skull. Unusual dentition, including malformed and unerrupted teeth . Lab Values: Normal serum calcium, phosphate, PTH and alkaline phosphatase. Erlenmeyer flask widening on X-ray. Pathophysiology: Genetic deficiency of carbonic anhydrase II leading to decreased osteoclast function. Treatment:
Symptoms: Soft bones, bowed legs, rachitic rosary (knobs at costochondral joints), Harrison's sulci, craniotabes (thinning of the skul), and growth retardation. Lab Values: Low serum calcium, high serum PTH, low serum phosphate. Normal alkaline phosphatase.Osteoid matrix accumulation. Pathophysiology: Defective mineralization/calcification of osteoid due to vitamin D deficiency. Increased unmineralized osteoid. Treatment: Vitamin D