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We present a newborn boy delivered at 39 weeks gestation with a prenatal diagnosis of skeletal dysplasia. He required endotracheal intubation and mechanical ventilation due to lack of respiratory effort. On physical examination, there was craniotabes, a bell-shaped chest, and brachymelic shortening of all four extremities. Radiographic studies showed lack of mineralisation of the skull except for the base, a small chest with very thin gracile and short ribs, extremely small and segmental regions of unmineralised vertebral bodies, and extremely short, dysplastic long bones with severe rachitic changes (figure 1).
Based on the clinical and radiographic findings, which of the …
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