A newborn with severe skeletal dysplasia
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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 …