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Distended jugular lymphatic sacs

MedGen UID:
1814207
Concept ID:
C5676629
Congenital Abnormality
HPO: HP:0025701

Definition

The jugular lymphatic sacs (JLS) are a physiological and temporary part of fetal lymphatic development. They are formed from small buds of lymphatic endothelial cells arising from the internal jugular veins. By 14 weeks gestation they have developed into lymphatic nodes which drain into the systemic circulation. Visibility of JLS on ultrasound past 14 weeks of gestation implies distension and this may be associated with raised nuchal translucency. [from HPO]

Term Hierarchy

CClinical test,  RResearch test,  OOMIM,  GGeneReviews,  VClinVar  
  • CROGVDistended jugular lymphatic sacs

Professional guidelines

PubMed

Croonen EA, Nillesen WM, Stuurman KE, Oudesluijs G, van de Laar IM, Martens L, Ockeloen C, Mathijssen IB, Schepens M, Ruiterkamp-Versteeg M, Scheffer H, Faas BH, van der Burgt I, Yntema HG
Eur J Hum Genet 2013 Sep;21(9):936-42. Epub 2013 Jan 16 doi: 10.1038/ejhg.2012.285. PMID: 23321623Free PMC Article

Recent clinical studies

Etiology

Inoue S, Moriya M, Watanabe Y, Miyagawa-Tomita S, Niihori T, Oba D, Ono M, Kure S, Ogura T, Matsubara Y, Aoki Y
Hum Mol Genet 2014 Dec 15;23(24):6553-66. Epub 2014 Jul 17 doi: 10.1093/hmg/ddu376. PMID: 25035421
Eckmann-Scholz C, Salmassi A, Jonat W, Alkatout I
J Matern Fetal Neonatal Med 2014 Feb;27(3):257-60. Epub 2013 Jun 27 doi: 10.3109/14767058.2013.809416. PMID: 23718767
Croonen EA, Nillesen WM, Stuurman KE, Oudesluijs G, van de Laar IM, Martens L, Ockeloen C, Mathijssen IB, Schepens M, Ruiterkamp-Versteeg M, Scheffer H, Faas BH, van der Burgt I, Yntema HG
Eur J Hum Genet 2013 Sep;21(9):936-42. Epub 2013 Jan 16 doi: 10.1038/ejhg.2012.285. PMID: 23321623Free PMC Article
Bekker MN, Haak MC, Rekoert-Hollander M, Twisk J, Van Vugt JM
Ultrasound Obstet Gynecol 2005 Mar;25(3):239-45. doi: 10.1002/uog.1831. PMID: 15736181

Diagnosis

Eckmann-Scholz C, Salmassi A, Jonat W, Alkatout I
J Matern Fetal Neonatal Med 2014 Feb;27(3):257-60. Epub 2013 Jun 27 doi: 10.3109/14767058.2013.809416. PMID: 23718767
Croonen EA, Nillesen WM, Stuurman KE, Oudesluijs G, van de Laar IM, Martens L, Ockeloen C, Mathijssen IB, Schepens M, Ruiterkamp-Versteeg M, Scheffer H, Faas BH, van der Burgt I, Yntema HG
Eur J Hum Genet 2013 Sep;21(9):936-42. Epub 2013 Jan 16 doi: 10.1038/ejhg.2012.285. PMID: 23321623Free PMC Article
Bekker MN, Go AT, van Vugt JM
Fetal Diagn Ther 2007;22(4):245-8. Epub 2007 Mar 16 doi: 10.1159/000100783. PMID: 17369688

Prognosis

Eckmann-Scholz C, Salmassi A, Jonat W, Alkatout I
J Matern Fetal Neonatal Med 2014 Feb;27(3):257-60. Epub 2013 Jun 27 doi: 10.3109/14767058.2013.809416. PMID: 23718767

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