Literature DB >> 2624276

Autosomal recessive intestinal lymphangiectasia and lymphedema, with facial anomalies and mental retardation.

R C Hennekam1, R A Geerdink, B C Hamel, F A Hennekam, P Kraus, J A Rammeloo, A A Tillemans.   

Abstract

We report on two male and two female relatives with intestinal lymphangiectasia; severe lymphedema of limbs, genitalia, and face; facial anomalies; seizures; mild growth retardation; and moderate mental retardation. Main facial anomalies are a flat face, flat nasal bridge, hypertelorism, small mouth, tooth anomalies, and ear defects. Their parents are consanguineous. This disorder probably is an hitherto undescribed autosomal recessive syndrome.

Entities:  

Mesh：

Year:  1989        PMID： 2624276     DOI： 10.1002/ajmg.1320340429

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


  36 in total

Review 1.  Pathogenesis of vascular anomalies.

Authors:  Laurence M Boon; Fanny Ballieux; Miikka Vikkula
Journal:  Clin Plast Surg       Date:  2011-01       Impact factor: 2.017

2.  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

3.  Linkage and sequence analysis indicate that CCBE1 is mutated in recessively inherited generalised lymphatic dysplasia.

Authors:  Fiona Connell; Kamini Kalidas; Pia Ostergaard; Glen Brice; Tessa Homfray; Lesley Roberts; David J Bunyan; Sally Mitton; Sahar Mansour; Peter Mortimer; Steve Jeffery
Journal:  Hum Genet       Date:  2009-11-13       Impact factor: 4.132

4.  Evaluation of Clinical Manifestations in Patients with Severe Lymphedema with and without CCBE1 Mutations.

Authors:  M Alders; A Mendola; L Adès; L Al Gazali; C Bellini; B Dallapiccola; P Edery; U Frank; F Hornshuh; S A Huisman; S Jagadeesh; H Kayserili; W T Keng; D Lev; C E Prada; J R Sampson; J Schmidtke; V Shashi; Y van Bever; N Van der Aa; J M Verhagen; J B Verheij; M Vikkula; R C Hennekam
Journal:  Mol Syndromol       Date:  2012-10-02

5.  Gastrointestinal lymphatics in health and disease.

Authors:  J S Alexander; Vijay C Ganta; P A Jordan; Marlys H Witte
Journal:  Pathophysiology       Date:  2010-09

6.  Hennekam lymphangiectasia syndrome: A rare case of primary lymphedema.

Authors:  Sarita Sanke; Taru Garg; Shanthini Manickavasagam; Ram Chander
Journal:  Indian J Dermatol Venereol Leprol       Date:  2021 Mar-Apr       Impact factor: 2.545

Review 7.  The Lymphatic Vasculature in the 21st Century: Novel Functional Roles in Homeostasis and Disease.

Authors:  Guillermo Oliver; Jonathan Kipnis; Gwendalyn J Randolph; Natasha L Harvey
Journal:  Cell       Date:  2020-07-23       Impact factor: 41.582

8.  Protein Losing Enteropathy in Hennekam Syndrome.

Authors:  Phani Priya Mandula; Rohan Malik; Gaurav Khanna
Journal:  Indian J Pediatr       Date:  2018-01-12       Impact factor: 1.967

9.  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

10.  Mutations in CCBE1 cause generalized lymph vessel dysplasia in humans.

Authors:  Marielle Alders; Benjamin M Hogan; Evisa Gjini; Faranak Salehi; Lihadh Al-Gazali; Eric A Hennekam; Eva E Holmberg; Marcel M A M Mannens; Margot F Mulder; G Johan A Offerhaus; Trine E Prescott; Eelco J Schroor; Joke B G M Verheij; Merlijn Witte; Petra J Zwijnenburg; Mikka Vikkula; Stefan Schulte-Merker; Raoul C Hennekam
Journal:  Nat Genet       Date:  2009-12       Impact factor: 38.330
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