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A Male Infant, Delivered at 38 Weeks' Gestation, Presents with Severe

Question 1

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A male infant, delivered at 38 weeks' gestation, presents with severe bowing of long bones, blue sclera, and craniotabes at birth. Radiographs show severe generalized osteoporosis, a broad and crumpled long bones, beading ribs, and a poorly mineralized skull. Histologic examination of the long bones revealed the trabeculae of the calcified cartilage with an abnormally thin layer of osteoid, and the bony trabeculae are thin and basophilic. The symptoms observed in the infant are characteristic of which disease?


A) Ehlers-Danlos syndrome
B) Hunter syndrome
C) Hurler syndrome
D) Marfan syndrome
E) osteogenesis imperfecta

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