A Case of Pycnodysostosis

Abstract

A girl aged eighteen years fell down in her school on April 30, 1968. She was diagnosed as the right tibial fracture and treated. But abnormal bone sclerosis was found radiologically and she was referred to our clinic. She has fracture history of the right tibia three times. There is no imbalance in her four limbs and trunk but she is considerably short. A large head and small face are unbalanced. There are palpable grooved concavities along the sutures and fontanelles. The row of teeth is irregular. Both index fingers are clubbed and development of the nails is poor.Roentgenographic examination revealed separation of the coronal, sagittal and lambdoid sutures. The fontanelles were open. The mandibular angle was flattened. There was no pneumatization of the frontal, maxillary or sphenoid sinuses. Configuration of the sella turcica was normal. A transverse fracture line was found in the middle of the right tibia. The uniform sclerosis of all bones was similar to marble bone disease. But the alternate dense and less dense bands seen in the osteopetrosis were not found. Laboratory examinations were normal, Chromosome analysis revealed no abnormality.A case of pycnodisostosis was presented with some discussions of the literature.