ArticleJournal of plastic and reconstructive surgery2026
A Case of Smith-Magenis Syndrome Undergoing Palatoplasty.
Article in Journal of plastic and reconstructive surgery, 2026. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Not yet cited in PubMed.
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Abstract
Smith-Magenis syndrome (SMS) is caused by a deletion in the 17p11.2 region or abnormalities in the RAI1 gene. Clinically, it is characterized by distinctive facial features, sleep disturbances, and neurobehavioral traits such as self-injurious behaviors and developmental delays. It may also be accompanied by ophthalmologic, ear, nose, and throat (ENT), and cardiovascular abnormalities. The prevalence of cleft lip and palate in SMS is reported to range from 0% to 25%; however, there are no detailed reports on speech therapy or speech evaluations following surgery in such patients. Given the significant individual variability in developmental delays among patients with SMS, careful consideration is necessary when determining surgical indications for cleft palate. We conducted regular language assessments, including evaluations of mental development, with a speech therapist, and determined that the patient was a candidate for cleft palate surgery when pre-linguistic speech with meaningful elements was confirmed. Herein, we report a case of SMS in which palatoplasty was performed.
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