Prader-Willi syndrome with a cleft palate: A case report

Keigo Kubota, Shinsaku Arai, Takeshi Mitsuyasu, Kaori Matsumura, Hideto Saijo, Kazuto Hoshi, Seiji Nakamura

研究成果: ジャーナルへの寄稿学術誌査読


Prader-Willi syndrome (PWS) is characterized by infantile hypotonia, hypogonadism, hyperphagia, developmental delay and mild mental retardation and characteristic facial features caused by the lack of genes on chromosome 15q11-q13. Frequency of PWS is estimated to be 1/10,000–1/15,000 and cleft lip and/or palate case is rare. Most PWS babies suffer from hypotonia with feeding problems and speech articulation defects, even though they have normal anatomical structure in oral region. We report a case of PWS with cleft palate (CP). Case: We report on a three-month-old male who was referred to our department from pediatrician of our hospital to treat a cleft in the soft palate. He had hypotonia, feeding problems, almond-shaped eyes and bilateral cryptorchidism at birth. The chromosome test was performed and he was diagnosed as PWS. The volume of milk feeding was improved by feeding training with age. However, when he started feeding with solid foods at 12 months old, a nasal emission was observed, so he disliked eating. After palatoplasty performed at 18 months old, a nasal emission was disappeared and food intake was increased markedly. One year after palatoplasty, his swallowing function was progressed and the velopharyngeal function improved to slight insufficiency. Conclusion: In this case, it is possible that palatoplasty had an effect on not only velopharyngeal functions but also his swallowing functions.

ジャーナルJournal of Oral and Maxillofacial Surgery, Medicine, and Pathology
出版ステータス出版済み - 5月 2020

!!!All Science Journal Classification (ASJC) codes

  • 外科
  • 口腔外科
  • 病理学および法医学
  • 耳鼻咽喉科学


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