Abstract
In 1984, congenital velopharyngeal incompetent patients with typical faces were defined as velo-facial syndrome (VFS) and craniofacial morphology, velopharyngeal structure, intraoral findings, mental development, and treatment results of VFS was reported.
The purpose of this study was to clarify the telation between VFS and CAT CH22 syndrome, and the clinical features of CATCH22 syndrome patients in comparison with those of no syndrome patients.
The chrom osome status of 20 CVPI patients (10 patients diagnosed as VFS,1 patient suspected as VFS,9 patients without typical faces) were tested using FISH analysis. The clinicai findings and treatment results of patients with deletion of 22q11 were compared with those without deletion of 22q11. The results were as follows:
1. All patients who were diagnosed and suspected as VFS showed deletion of chromosome 22q11, and the diagnosis was CATCH22 syndrome. However, none of the patien ts without typical faces showed deletion of chromosome 22q11.
2. Most CATCH22 syndrome patients did no t have any of Calnan's triad. In no syndrome patients, the submucous cleft palate with Calnan's triad was observed most.
3. As a result of cephalometric analysis, both patients with short and thin soft palate and those with disproportion between the length of the soft palate and depth of the pharynx were recognized in CATCH22 syndrome. In no syndrome, patients with short and thin soft palate were the most.
4. CAT CH22 syndrome patients showed mild mental retardation. IQ scores which were obtained by the Wechstler Intelligence Scale ranged between 39 and 74 (mean: 59).
5. Cardiac defects were found in 5 of 11 patients (45.6% ), and ear anomalies were present in 2 of 11 patients in CATCH22 syndrome.
6. Patients with CATCH22 syn drome showed unsatisfactory treatment results and needed a longer period than the no syndrome patients to improve adequate velopharyngeal function by prosthodontic treatment.
7. It was cla rified that VFS was associated with deletions of chromosome 22q11 and was included in CATCH22 syndrome as well as velo-cardio-facial syndrome and conotruncal anomaly face syndrome. This study suggested that typical faces were critical factor to suspect CATCH22 syndrome Clinically.
