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A newborn with severe skeletal dysplasia
  1. Faouzi I Maalouf,
  2. Sarah A Coggins,
  3. John A Phillips III,
  4. Beatrice M Stefanescu,
  5. Jörn-Hendrik Weitkamp
  1. Department of Pediatrics, Vanderbilt University School of Medicine and Monroe Carell Jr. Children's Hospital at Vanderbilt, Nashville, Tennessee, USA
  1. Correspondence to Dr Jörn-Hendrik Weitkamp, Department of Pediatrics, Division of Neonatology, Vanderbilt University & Monroe Carell Jr. Children's Hospital at Vanderbilt, 2215 B Garland Ave, 1125 MRB IV/Light Hall, Nashville, TN 37232-0656, USA; hendrik.weitkamp{at}vanderbilt.edu

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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 …

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