2021 Volume 42 Issue 3 Pages 271-275
Purpose：Williams syndrome is a developmental disorder characterized by congenital heart disease, intellectual impairment, and dysmorphic facial features. It is caused by a hemizygous deletion of the elastin gene on chromosome 7q11.23. The prevalence of Williams syndrome is estimated to be 1 in 7,500 live births. In this case report, we present a patient with Williams syndrome with submucous cleft palate and multiple congenitally missing teeth, accompanied with dysarthria.
Case：The patient was a 9-year-old girl who came to our hospital with a complaint of unclear conversation. She had been diagnosed with Williams syndrome at another hospital.
On our examination, she was diagnosed with submucous cleft palate because she had the Calnan triad of clinical sign. In the panoramic radiography, permanent teeth numbered 15, 13, 12, 24, 25, and 45 were congenitally missing. Next, we evaluated the velopharyngeal closure and performed a developmental examination. As a result of snort mirror examination, no obvious cloudiness was observed at the time of blowing and articulation, so we diagnosed that her velopharyngeal closure had extremely mild deficiency. Her intelligence quotient was about that of a three-year-old. Because on our examination her velopharyngeal insufficiency was extremely mild, we decided not to perform palatoplasty but to prioritize language training. Although she had intellectual impairment and was unable to follow our instructions for language training well, when we gave her visual feedback on exhalation movements, her dysarthria improved.
Conclusion：We report the case of a patient with Williams syndrome with submucous cleft palate and multiple congenitally missing teeth, accompanied with dysarthria. Cleft palate has been reported in the literature in just a few cases as part of the multiple-disorder characteristic of Williams syndrome. We have not found any reports of Williams syndrome accompanied with submucous cleft palate in our search so far. From this report, it is undeniable that submucous cleft palate may become one of the phenotypes if cases of submucous cleft palate increase in the future. Even if normal speech treatment is difficult due to intellectual disability, the symptoms may improve depending on the training method. In addition, if the accompanying dysarthria becomes apparent as in this case, there may be an organic abnormality. Therefore, if the symptom does not improve through language training, it may be necessary to consult a speech pathologist from an early stage.
