口蓋裂を伴ったKniest Dysplasiaの4例

抄録

Kniest dysplasia is an extremely rare bone dysplasia; cleft palate is involved in 40 to 50% of the patients. Four cases of Kniest dysplasia with cleft palate are reported. The patients were three girls and one boy, from 52 days to 1 year 8 months of age at presentation to our clinic. Two of the patients were siblings, and they were related to the other patient. This suggests that hereditary factors play an important role in the onset of this disease. All patients had typical features of Kniest dysplasia on facial examination and X-ray film of the limbs. All cases underwent palatoplasty at our clinic and were treated for club foot at the department of orthopedic surgery. Including our patients, 21 cases of Kniest dysplasia have been reported in Japan, and cleft palate was present in 10 of them. This ratio agrees with the previous reports.