先天性鼻咽腔閉鎖不全症を伴ったCATCH22症候群の1例

抄録

A case of CATCH22 syndrome with congenital velopharyngeal incompetence, which is associated with deletions of chromosome 22q11, is reported. The deletions of chromosome 22q11 were detected by fluoresence in situ hybridization (FISH).
The patient had cardiac defects (Ventricular septal defect), an abnormal face, congenital velopharyngeal incompetence and mental retardation.
A speech aid appliance was used to treat velopharyngeal incompetence, and speech therapy was performed for the articulation disorder. Good velopharyngeal closure and speech were obtained.