지원사업
학술연구/단체지원/교육 등 연구자 활동을 지속하도록 DBpia가 지원하고 있어요.
커뮤니티
연구자들이 자신의 연구와 전문성을 널리 알리고, 새로운 협력의 기회를 만들 수 있는 네트워킹 공간이에요.
논문 기본 정보
- 자료유형
- 학술저널
- 저자정보
- 발행연도
- 2014.1
- 수록면
- 74 - 78 (5page)
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초록· 키워드
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Vertebral, anal, cardiac, tracheo-esophageal, renal, and limb(VACTERL) association is defined as the presence of at least three of the above-mentioned six manifestations. An estimated incidence of the VACTERL association is 1 in 20,000 to 35,000 live births although the diagnostic criteria vary. The VACTERL association is highly heterogeneous in clinical presentation. It may represent a spectrum from the less severely affected to the more severely affected. Diagnosis is difficult because of the number of disorders that have overlapping features with trisomy 13 syndrome, trisomy 18 syndrome, trisomy 21 syndrome, Feingold syndrome, and so on. The incidence of trisomy 18 syndrome, a type of a chromosomal disorder, is estimated to be 1 in 6,000-8,000 live births. It includes characteristic craniofacial anomalies, clenched hand with overlapping of index finger over third, fifth finger over fourth, underdeveloped thumbs, short sternum, cardiac anomalies such as ventricular septal defect, and renal anomalies such as horseshoe kidney. Approximately over 50% of infants with trisomy 18 syndrome live less than one week. In 1983, Khoury et al. reported VACTERL association combined with trisomy 18 syndrome. Here, we report a case of a low birth weight female infant with VACTERL association, whose second diagnosis is Edward syndrome, and that she also has another combined anomaly, meningomyelocele. To the best of our knowledge, this is the first reported case of VACTERL association with meningomyelocele combined with trisomy 18 syndrome in Korea.
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참고문헌 (15)
참고문헌 신청
Agochukwu NB / 2011 / Analysis of FOXF1 and the FOX gene cluster in patients with VACTERL association / Eur J Med Genet 54 : 323 ~ 328
Cereda A / 2012 / The trisomy 18 syndrome / Orphanet J Rare Dis 7 : 81 ~
Depaepe A / 1993 / The epidemiology of tracheooesophageal fistula and oesophageal atresia in Europe. EUROCAT Working Group / Arch Dis Child 68 : 743 ~ 748
Khan S / 2011 / Nelson Textbook of Pediatrics / Elsevier Saunders : 1262 ~ 1263
Khoury MJ / 1983 / A population study of the VACTERL association: evidence for its etiologic heterogeneity / Pediatrics 71 : 815 ~ 820
Cereda A / 2012 / The trisomy 18 syndrome / Orphanet J Rare Dis 7 : 81 ~
Depaepe A / 1993 / The epidemiology of tracheooesophageal fistula and oesophageal atresia in Europe. EUROCAT Working Group / Arch Dis Child 68 : 743 ~ 748
Khan S / 2011 / Nelson Textbook of Pediatrics / Elsevier Saunders : 1262 ~ 1263
Khoury MJ / 1983 / A population study of the VACTERL association: evidence for its etiologic heterogeneity / Pediatrics 71 : 815 ~ 820
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