軟口蓋裂を伴ったCATCH22症候群の3例

抄録

CATCH 22 syndrome, defined by Wilson in 1993, is associated with cardiac defects, abnormal face, thymic hypoplasia, cleft palate, and hypocalcemia resulting from microdeletions of chromosome 22q11. We report three cases of CATCH 22 syndrome with cleft palate. All patients had a small mouth, bloated eye lids, and a low nasal bridge. Ocular hypertelorism and short palpebral fissures were found in two patients. Two had tetralogy of fallot, and none had thymic hypoplasia. Palatoplasty was performed in all three patients.