词条 | Njølstad syndrome |
释义 |
| name = | synonym = | image = | image_size = | alt = | caption = | pronounce = | specialty = | symptoms = | complications = | onset = | duration = | types = | causes = | risks = | diagnosis = | differential = | prevention = | treatment = | medication = | prognosis = | frequency = | deaths = }} 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] References1. ^1 2 {{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
3 : Syndromes affecting the skin|Rare syndromes|Syndromes with craniofacial abnormalities |
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