An unusual skeletal dysplasia co-existing with metachromatic leucodystrophy.
D001827:Body Height; D001848:Bone Diseases, Developmental / Q000000981:diagnostic imaging / Q000235:genetics*; D002648:Child; D005260:Female; D005684:Gait; D005808:Genes, Recessive; D006801:Humans; D007966:Leukodystrophy, Metachromatic / Q000235:genetics*; D011859:Radiography