Abstract
Abstract Four patients of velo-cardio-facial syndrome with 22q11 deletions are reported. The velocardiofacial syndrome (VCFS) has been reported to be associated with a microdeletion of chromosome 22q11 and is likely to be caused by reduced dosage of genes within this region. Among ei ght patients with submucous cleft or occult submucous cleft in our series, four patients had 2201 deletions confirmed by fluoresence in situ hybridisation (FISH). None of the four patients showed the full spectrum of the VCFS features. Only one patient had a minor cardiac defect, but all of them had typical VCFS faces and mild learning disabilities. None of three patients who underwent surgery for velopharyngeal incompetence could obtain good articulation in spite of adequate velopharyngeal function.
It is suggested that a percentage of VCFS with or without 22q11 deletions amon g patients with submucous cleft or occult submucous cleft is much higher than formerly estimated. Phenotypes of VCFS are variable and cardiac defects are often absent. It is possible that articular habilitation could be disturbed by learning disabilities. Therefore, in addition to the treatment of velopharyngeal incompetence, neuropsychological evaluation should be considered important in the management of VCFS.
