TY - JOUR T1 - A newborn with severe skeletal dysplasia JF - Archives of disease in childhood - Education & practice edition JO - Arch Dis Child Educ Pract Ed SP - 147 LP - 147 DO - 10.1136/archdischild-2015-308719 VL - 101 IS - 3 AU - Faouzi I Maalouf AU - Sarah A Coggins AU - John A Phillips III AU - Beatrice M Stefanescu AU - Jörn-Hendrik Weitkamp Y1 - 2016/06/01 UR - http://ep.bmj.com/content/101/3/147.abstract N2 - 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 … ER -