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
- 2015.1
- 수록면
- 82 - 85 (4page)
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초록· 키워드
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Galloway-Mowat syndrome (GMS) is a rare autosomal recessive disorder comprising of early-onset nephroticsyndrome and central nervous system involvement including microcephaly, seizure and developmental delay.
Although hiatal hernia is no longer considered essential findings for diagnosis, clinical triad of GMS includednephrotic syndrome, neurological manifestations, and hiatal hernia in the original description. We experienceda case of newborn with GMS presenting these clinical triad in neonatal period. A male infant weighing 2,250g was born at gestational week 39+3 by cesarean section. The patient revealed mild dysmorphic facial featuresand microcephaly. On day 7, Nissen fundoplication was done because of hiatal hernia with gastric volvulus. Atthe age of 2 weeks he developed nephrotic syndrome with proteinuria and hypoalubuminemia. This is the firstcase of GMS that three classic findings were present in neonatal period in Korea.
목차
등록된 정보가 없습니다.
참고문헌 (10)
참고문헌 신청
Galloway WH / 1968 / Congenital microcephaly with hiatus hernia and nephrotic syndrome in two sibs / J Med Genet 5:319~321
Cooperstone BG / 1993 / Galloway-Mowat syndrome of abnormal gyral patterns and glomerulopathy / Am J Med Genet 47:250~254
De Vries BB / 2001 / Diagnostic dilemmas in four infants with nephrotic syndrome, microcephaly and severe developmental delay / Clin Dysmorphol 10:115~121
Meyers KE / 1999 / Nephrotic syndrome, microcephaly, and developmental delay: three separate syndromes / Am J Med Genet 82:257~260
정혜성 / 2001 / 남매에서 발생한 Galloway-Mowat 증후군 2례 / Korean Journal of Pediatrics 44(9):1081~1084
Cooperstone BG / 1993 / Galloway-Mowat syndrome of abnormal gyral patterns and glomerulopathy / Am J Med Genet 47:250~254
De Vries BB / 2001 / Diagnostic dilemmas in four infants with nephrotic syndrome, microcephaly and severe developmental delay / Clin Dysmorphol 10:115~121
Meyers KE / 1999 / Nephrotic syndrome, microcephaly, and developmental delay: three separate syndromes / Am J Med Genet 82:257~260
정혜성 / 2001 / 남매에서 발생한 Galloway-Mowat 증후군 2례 / Korean Journal of Pediatrics 44(9):1081~1084
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