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학술연구/단체지원/교육 등 연구자 활동을 지속하도록 DBpia가 지원하고 있어요.
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연구자들이 자신의 연구와 전문성을 널리 알리고, 새로운 협력의 기회를 만들 수 있는 네트워킹 공간이에요.
논문 기본 정보
- 자료유형
- 학술저널
- 저자정보
- 발행연도
- 2018.1
- 수록면
- 184 - 188 (5page)
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초록· 키워드
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Hennekam syndrome is a rare autosomal recessive disorder resulting from malformation of the lymphatic system. The characteristic signs of Hennekam syndrome are lymphangiectasia, lymph edema, facial anomalies, and mental retardation. This is a case in which a patient presented with left-arm lymphedema, facial-feature anomalies, and multiple organ lymphangiectasia consistent with symptoms of Hennekam syndrome. There is no curative therapy at this time, but rehabilitative treatments including complete decongestive therapy for edema control appeared to be beneficial.
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등록된 정보가 없습니다.
참고문헌 (9)
참고문헌 신청
Hennekam RC / 1989 / Autosomal recessive intestinal lymphangiectasia and lymphedema, with facial anomalies and mental retardation / Am J Med Genet 34:593~600
Rao BS / 2015 / Hennekam lymphangiectasia syndrome / Int J Res Med Sci 3:516~519
Van Balkom ID / 2002 / Lymphedema-lymphangiectasiamental retardation (Hennekam) syndrome: a review / Am J Med Genet 112:412~421
Alders M / 2009 / Mutations in CCBE1 cause generalized lymph vessel dysplasia in humans / Nat Genet 41:1272~1274
Alders M / 2014 / Hennekam syndrome can be caused by FAT4 mutations and be allelic to Van Maldergem syndrome / Hum Genet 133:1161~1167
Rao BS / 2015 / Hennekam lymphangiectasia syndrome / Int J Res Med Sci 3:516~519
Van Balkom ID / 2002 / Lymphedema-lymphangiectasiamental retardation (Hennekam) syndrome: a review / Am J Med Genet 112:412~421
Alders M / 2009 / Mutations in CCBE1 cause generalized lymph vessel dysplasia in humans / Nat Genet 41:1272~1274
Alders M / 2014 / Hennekam syndrome can be caused by FAT4 mutations and be allelic to Van Maldergem syndrome / Hum Genet 133:1161~1167
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