An unusual skeletal dysplasia with platyspondyly and marked digital metaphyseal involvement: a new entity?
D001827:Body Height; D001848:Bone Diseases, Developmental / Q000000981:diagnostic imaging / Q000235:genetics*; D002648:Child; D003241:Consanguinity; D005385:Fingers / Q000002:abnormalities*; D005808:Genes, Recessive; D006801:Humans; D007403:Intervertebral Disc / Q000002:abnormalities*; D008297:Male; D010375:Pedigree; D011859:Radiography; D013577:Syndrome