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
- 2019.1
- 수록면
- 484 - 486 (3page)
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초록· 키워드
오류제보하기
Infantile cortical hyperostosis, or Caffey’s disease, usually presents with typical radiological features of soft tissue swelling andcortical thickening of the underlying bone. The disease can be fatal when it presents antenatally, especially before a gestationalage of 35 weeks. This fatal, premature form of the disease is known to occur in various ethnic groups around the globe, and approximately30 cases have been reported in English literature. This paper is unique in that it is the first paper to report a lethalform of prenatal-type infantile cortical hyperostosis diagnosed in South Korea. Born at gestational age of 27 weeks and 4 days, thepatient had typical features of polyhydramnios, anasarca, hyperostosis of multiple bones, micrognathia, pulmonary hypoplasia,and hepatomegaly. The patient was hypotonic, and due to pulmonary hypoplasia and persistent pulmonary hypertension, had tobe supported with high frequency ventilation throughout the entire hospital course. Due to the disease entity itself, as well as prolongedparenteral nutrition, liver failure progressed, and the patient expired on day 38 when uncontrolled septic shock was superimposed. The chromosome karyotype of the patient was normal, 46, XX, and COL1A1 gene mutation was not detected.
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등록된 정보가 없습니다.
참고문헌 (7)
참고문헌 신청
Kamoun-Goldrat A / 2008 / Prenatal cortical hyperostosis with COL1A1gene mutation / Am J Med Genet A 146A:1820~1824
오병래 / 2000 / 허악골을 침범하지 않고 산발적으로 발생한 Caffey's Disease 1례 / Clinical and Experimental Pediatrics 43(9):1294~1299
Wright JR Jr / 2005 / Prenatal infantile cortical hyperostosis(Caffey’s disease) : a ‘hepatic myeloid hyperplasiapulmonary hypoplasia sequence’ can explain the lethality of early onset cases / Prenat Diagn 25:939~944
Al-Harbi M / 2014 / Prenatal Caffey disease case report and review of the literature / Med J Cairo Univ 82:625~628
Cerruti-Mainardi P / 2011 / Infantile cortical hyperostosis and COL1A1 mutation in four generations / Eur J Pediatr 170:1385~1390
오병래 / 2000 / 허악골을 침범하지 않고 산발적으로 발생한 Caffey's Disease 1례 / Clinical and Experimental Pediatrics 43(9):1294~1299
Wright JR Jr / 2005 / Prenatal infantile cortical hyperostosis(Caffey’s disease) : a ‘hepatic myeloid hyperplasiapulmonary hypoplasia sequence’ can explain the lethality of early onset cases / Prenat Diagn 25:939~944
Al-Harbi M / 2014 / Prenatal Caffey disease case report and review of the literature / Med J Cairo Univ 82:625~628
Cerruti-Mainardi P / 2011 / Infantile cortical hyperostosis and COL1A1 mutation in four generations / Eur J Pediatr 170:1385~1390
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