A new variant of spondylometaphyseal dysplasia with autosomal dominant mode of inheritance.
Clinical and radiographic evaluation of an infant boy and his father revealed findings suggesting a new variant of spondylometaphyseal dysplasia with an apparently autosomal dominant mode of inheritance. The main clinical findings included short stature and marked ligamentous laxity in the infant. X-ray findings included severe and peculiar multiple metaphyseal involvement and striking vertebral undermineralisation in the infant, and platyspondyly in the father. However, all the epiphyses were normal. Laboratory studies were essentially normal except for an extremely raised serum alkaline phosphatase in the infant. The uniqueness of these findings suggests a new variant of the spondylometaphyseal dysplasias, distinct from the cases described initially by Kozlowski et al and subsequent investigators.
D000328:Adult; D000469:Alkaline Phosphatase / Q000097:blood; D001827:Body Height; D001848:Bone Diseases, Developmental / Q000235:genetics*; D005799:Genes, Dominant; D014644:Genetic Variation; D006319:Hearing Loss, Sensorineural / Q000235:genetics; D006801:Humans; D007231:Infant, Newborn; D008023:Ligaments, Articular / Q000002:abnormalities; D008297:Male; D013131:Spine / Q000002:abnormalities*; D013577:Syndrome
D000469:Alkaline Phosphatase