Fig. 2From: Quaternary diagnostics scheme for mucolipidosis II and detection of novel mutation in GNPTAB genePatient no. 2 at the age of 3 months. A Coarse facies, digital contractures, indrawn chest wall, and Michelin tyre appearance of skin folds in the limbs. B X-rays showing short thick long bones with splayed metaphyses, small epiphyses, horizontal ribs and short, square or biconvex vertebral bodiesBack to article page