Njølstad syndrome

Njølstad syndrome

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. 1 2 3 Njølstad, P. R.; Reigstad, H.; Westby, J.; Espeland, A. (1998-05-01). "Familial non-immune hydrops fetalis and congenital pulmonary lymphangiectasia". European Journal of Pediatrics. 157 (6): 498–501. doi:10.1007/s004310050862. ISSN 0340-6199. PMID 9667408. S2CID 43657099.
  2. ↑ Jackson, Scott; Nesbitt, Lee T. (2012-04-25). Differential Diagnosis for the Dermatologist. Springer Science & Business Media. ISBN 9783642280061.
  3. ↑ Northup, K. A.; Witte, M. H.; Witte, C. L. (December 2003). "Syndromic classification of hereditary lymphedema" (PDF). Lymphology. 36 (4): 162–189. ISSN 0024-7766. PMID 14992570.

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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