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词条 Njølstad syndrome
释义

  1. References

  2. Further reading

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Njølstad syndrome is a syndrome characterized by non-immune hydrops fetalis (NIHF), congenital pulmonary lymphangiectasia (CPL)[1].

Clinical features found in Njølstad syndrome include: facial and limbs lymphedema[1][2], facial abnormalities (thin upper lip, protruding ears), pectus excavatum and vulvar and labial edema.[3]

It is named after the Norwegian pediatrician Pål Rasmus Njølstad who published a report on three siblings with the condition in 1997.[1]

References

1. ^{{Cite journal|last=Njølstad|first=P. R.|last2=Reigstad|first2=H.|last3=Westby|first3=J.|last4=Espeland|first4=A.|date=1998-05-01|title=Familial non-immune hydrops fetalis and congenital pulmonary lymphangiectasia|journal=European Journal of Pediatrics|language=en|volume=157|issue=6|pages=498–501|doi=10.1007/s004310050862|pmid=9667408|issn=0340-6199}}
2. ^{{Cite book|url=https://books.google.de/books?id=nvQruBczhccC&pg=PA1432|title=Differential Diagnosis for the Dermatologist|last=Jackson|first=Scott|last2=Nesbitt|first2=Lee T.|date=2012-04-25|publisher=Springer Science & Business Media|isbn=9783642280061|language=en}}
3. ^{{Cite journal|last=Northup|first=K. A.|last2=Witte|first2=M. H.|last3=Witte|first3=C. L.|date=December 2003|title=Syndromic classification of hereditary lymphedema|url=http://www.lymphology.eu/wp-content/uploads/2011/03/162-189Mar2003Witte.pdf|journal=Lymphology|volume=36|issue=4|pages=162–189|issn=0024-7766|pmid=14992570}}

Further reading

  • {{cite book |author=Rapini, Ronald P. |author2=Bolognia, Jean L. |author3=Jorizzo, Joseph L. |title=Dermatology: 2-Volume Set |publisher=Mosby |location=St. Louis |year=2007 |pages= |isbn=978-1-4160-2999-1 |oclc= |doi= |accessdate=}}

3 : Syndromes affecting the skin|Rare syndromes|Syndromes with craniofacial abnormalities

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