Literature DB >> 1897580

Intestinal lymphangiectasia, lymphedema, mental retardation, and typical face: confirmation of the Hennekam syndrome.

O Gabrielli1, C Catassi, A Carlucci, G V Coppa, P Giorgi.   

Abstract

We report on a male with intestinal lymphangiectasia, mild mental retardation, seizures, and a typical face; the syndrome was first delineated by Hennekam et al., Am. J. Med. Genet. 34:593-600 [1989]. His parents are consanguineous. This case seems to confirm the existence of the Hennekam syndrome.

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Year:  1991        PMID： 1897580     DOI： 10.1002/ajmg.1320400223

Source DB:  PubMed          Journal:  Am J Med Genet        ISSN： 0148-7299


  4 in total

1.  A Multiplex Kindred with Hennekam Syndrome due to Homozygosity for a CCBE1 Mutation that does not Prevent Protein Expression.

Authors:  Carolyn C Jackson; Lucy Best; Lazaro Lorenzo; Jean-Laurent Casanova; Jochen Wacker; Simone Bertz; Abbas Agaimy; Thomas Harrer
Journal:  J Clin Immunol       Date:  2015-12-19       Impact factor: 8.317

2.  Hennekam syndrome: an uncommon cause of chylous ascites and intestinal lymphangiectasia in the tropics.

Authors:  Jagadeesh Menon; Vybhav Venkatesh; Balamurugan Thirunavukkarasu; Sadhna Bhasin Lal
Journal:  BMJ Case Rep       Date:  2019-07-19

3.  Hennekam lymphangiectasia syndrome.

Authors:  G Lakshminarayana; A Mathew; R Rajesh; G Kurien; V N Unni
Journal:  Indian J Nephrol       Date:  2011-10

Review 4.  Personalized Therapy for Generalized Lymphatic Anomaly/Gorham-Stout Disease With a Combination of Sunitinib and Taxol.

Authors:  Jochen Rössler; Ulrich Saueressig; Gian Kayser; Moritz von Winterfeld; Gianoula L Klement
Journal:  J Pediatr Hematol Oncol       Date:  2015-11       Impact factor: 1.289
  4 in total

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