A 2½-year-old boy was referred to Rambam Medical Center, Haifa, Israel, because of a suspected fracture of his left femur after minor trauma. During the last eight months he had been admitted twice to another hospital because of limb fractures. He was the third child of second-degree cousins. On physical examination he was found to be small for his chronologic age. His weight was 10.2 kg (−3.0 SDs) and his height 77.0 cm (−4.0 SDs). The blood pressure was 92/64 mm Hg. Except for tenderness and crepitations above the left knee, the physical examination results were normal.
Pertinent laboratory values were as follows: hemoglobin, 10.4 g/dL; urinalysis, trace amounts of protein; serum creatinine, 1.3 mg/dL; serum urea nitrogen, 31 mg/dL; uric acid, 7.3 mg/dL; calcium, 10.4 mg/dL; phosphate, 3.6 mg/dL; alkaline phosphatase, 272 mIU/mL; sodium, 141 mEq/L; potassium, 4.3 mEq/L; and bicarbonate, 15.2 mEq/L.
Following roentgenography of his left femur