Osteoglophonic dwarfism in two generations.
A father and son, both affected by a skeletal dysplasia with severe craniofacial deformities, are reported and compared to three previously described isolated cases of the same dwarfism. The principal features are craniosynostosis, multiple lucent metaphyseal defects, flattening and anterior beaking of the vertebral bodies, and abnormal dentition. Autosomal dominant inheritance is suggested.
D000328:Adult; D003394:Craniofacial Dysostosis / Q000000981:diagnostic imaging / Q000235:genetics*; D004392:Dwarfism / Q000235:genetics*; D005097:Exostoses, Multiple Hereditary / Q000235:genetics; D005799:Genes, Dominant; D006801:Humans; D007223:Infant; D008297:Male; D008684:Metatarsus / Q000002:abnormalities; D011859:Radiography