1. (Left) Characteristic appearance of a newborn with achondrogenesis type 1B, born at week 34 and deceased 25 minutes after birth. Note the flat face, the narrow thorax with protuberant abdomen, and the severe micromelia with short, stubby fingers and toes. This patient was homozygous for the DTDST V340 mutation. (Right) X-ray of the same newborn. Following the resuscitation attempts, there is air in the stomach and intestine but not in the lungs. Note the skeletal changes: hypoplasia of the rib cage and severe shortening of the long bones of the limbs. (Reprinted with permission from Superti-Furga.59 )
Source: Defects in Sulfate Metabolism and Skeletal Dysplasias, The Online Metabolic and Molecular Bases of Inherited Disease
Citation: Valle D, Beaudet AL, Vogelstein B, Kinzler KW, Antonarakis SE, Ballabio A, Gibson K, Mitchell G. The Online Metabolic and Molecular Bases of Inherited Disease; 2014 Available at: Accessed: October 19, 2017
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