Journal of the korean academy of Pediatric Dentistry (대한소아치과학회지)

Korean Academy of Pediatric Dentistry (대한소아치과학회)
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MULTIDISCIPLINARY CARE OF FREEMAN SHELDON SYNDROME

Freeman-Sheldon Syndrome의 치료에 대한 고찰

  • Kim, Ji-Hun (Department of Pediatric Dentistry, Wonju College of Medicine, Yonsei University) ;
  • Lee, Jeong-Sub (Department of Orthodontics, Wonju College of Medicine, Yonsei University) ;
  • Chang, Cherry (Department of Pediatric Dentistry, Wonju College of Medicine, Yonsei University)
  • 김지훈 (연세대학교 원주의과대학 소아치과학교실) ;
  • 이정섭 (연세대학교 원주의과대학 교정학교실) ;
  • 장채리 (연세대학교 원주의과대학 소아치과학교실)
  • Received : 2010.09.25
  • Accepted : 2010.11.13
  • Published : 2010.11.30
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Abstract

Freeman-Sheldon Syndrome (FSS, also known as "Whistling Face Syndrome") is a rare genetic condition which characteristically includes a small "whistling" mouth, a flat mask-like face, club feet, joint contractures usually involving the fingers and hands, and under-development of the cartilage of the nose. Intelligence is usually normal. Most of the features of this syndrome are due to muscle weakness. The patient, 11 years old boy was consulted from pediatrics to pediatric dentistry due to dental management. After clinical & radiographic examinations, severe multiple problems were found. Dental problems were microsomia(whistling mouth) & micrognathia, perioral muscle contracture, restricted mouth opening, poor oral hygiene & care, generalized dental caries, high palatal vault, severe malocclusion & crowding. And Orthopedic problems, ophthalmic & respiratory, anesthetic problems were found. Then He also had psychiatric problem, hospital(dental) phobia due to previous medical history(frequent hospitalization). And he had genital problem, cryptochidism, too. Due to these intricate problems, he suffered with feeding, swallowing difficulties and showed growth retardation. For enhancing patient's oral health, pediatric dentist, orthodontist, oral surgeon, pediatrician, psychiatrist, orthopedist, they all agree with early, cautious intervention and treatment. So, he has been treated by multidisciplinary care, now he is recovering general health maintenance.

Freeman-Sheldon Syndrome(FSS)은 드물게 발생하는 선천성 유전 질환으로 휘파람을 부는 듯한 특징적인 안모로 인해 'Whistling face syndrome'으로 불리워진다. 또한 편평한 안모, 긴 인중(philtrum), 낮은 비연골이 나타나 두드러진 안면이상을 보이고, 내반족(club foot, 內反足), 손가락의 관절구축(joint contracture)으로 인한 풍차 모양의 손을 가지며, 지능은 보통 정상이다. 본원에 내원한 환아는 이 질환의 특징적 양상인 구강 주위 근육의 수축으로 소구증 및 개구제한, 높은 구개 및 부정교합, 치열의 심한 총생을 보여 구강위생이 매우 불량하였고 치과치료에 비협조적이었다. 소아치과적 행동조절 및 구강위생관리, 섭식장애의 상담으로 치과적 문제는 다소 개선되었으나, 안과 및 정형외과, 신경정신과, 교정과, 마취과적 문제로 인해 다양한 협진이 필요하며 계속적인 관찰 및 치료가 요구되기에 이를 보고하는 바이다.

Keywords

References

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