Medicine:Njølstad syndrome
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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
- ↑ 1.0 1.1 1.2 Njølstad, P. R.; Reigstad, H.; Westby, J.; Espeland, A. (1998-05-01). "Familial non-immune hydrops fetalis and congenital pulmonary lymphangiectasia" (in en). European Journal of Pediatrics 157 (6): 498–501. doi:10.1007/s004310050862. ISSN 0340-6199. PMID 9667408.
- ↑ Jackson, Scott; Nesbitt, Lee T. (2012-04-25) (in en). Differential Diagnosis for the Dermatologist. Springer Science & Business Media. ISBN 9783642280061. https://books.google.com/books?id=nvQruBczhccC&pg=PA1432.
- ↑ Northup, K. A.; Witte, M. H.; Witte, C. L. (December 2003). "Syndromic classification of hereditary lymphedema". Lymphology 36 (4): 162–189. ISSN 0024-7766. PMID 14992570. http://www.lymphology.eu/wp-content/uploads/2011/03/162-189Mar2003Witte.pdf.
Further reading
- Rapini, Ronald P.; Bolognia, Jean L.; Jorizzo, Joseph L. (2007). Dermatology: 2-Volume Set. St. Louis: Mosby. ISBN 978-1-4160-2999-1.
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