SECKEL 증후군 환자의 증례보고
Seckel syndrome: Case reports
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초록
Seckel 증후군은 상염색체 열성 유전질환으로 태내에서의 성장지연에 따른 출생 후의 소인증, 심한 소두증을 나타내며, 큰눈과 돌출된 코, 후퇴된 하악을 동반한 새 모양의 안모가 특징적이다. 다른 임상증상으로는 관절의 결함, 내반족, 드문드문 난모발, 비뇨생식기의 이형성, 정신지체, 혈액학적 이상 등이 나타날 수 있다. Seckel 증후군의 구강 내 소견으로는 부정교합,법랑질 저형성증, 일부 치아의 선천적 결손, 우상치 등이 나타날 수 있다. 본 증례는 Seckel 증후군을 보이는 두 증례에서 발육부전, 새 모양의 안모, 비뇨기과적 기형, 치아의 저형성과 부정교합 등다양한 전신증상과 구강 내 증상들을 보였기에 이를 보고하는 바이다.
Abstract
Seckel syndrome is an autosomal recessive disorder characterized by intrauterine growth retardation and post-natally by dwarfism, severe microcephaly, bird-headed profile with receding chin, prominent nose, joint defects,clubfoot, sparse hair, malformation of genitourinary tract and rectum, mental retardation and hematological disorders. There is also a reduction in the number of blood cells. Dental anomalies of Seckel syndrome are crowded teeth with malocclusion, enamel hypoplasia, absence of some teeth and taurodontism. This report described the oral and maxillofacial manifestations of children associated with Seckel syndrome. Children with Seckel syndrome have several dental and skeletal irregularities. The purpose of this study was to report the dental and medical characteristics of the patient and review the literatures of Seckel syndrome.
참고문헌 (12)
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- Rajamani A, "Anesthesia for cleft lip surgery in a child with Seckel syndrome -a case report", Pediatr Anesth, 15, pp.338~341 (2005)