Literature DB >> 9217224

Expansion of the phenotype in Hennekam syndrome: a case with new manifestations.

B Angle1, J H Hersh.   

Abstract

We report on a female with lymphedema, facial anomalies, intestinal lymphangiectasia, and moderate mental retardation consistent with the diagnosis of Hennekam syndrome. In addition, she had a number of other anomalies not previously described in this autosomal recessive disorder, including a congenital heart defect, atretic ear canals, vesicoureteral reflux, and rectal prolapse.

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Year:  1997        PMID: 9217224

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


  2 in total

1.  A Rare Cause of Chylothorax: Hennekam Syndrome.

Authors:  Hayriye Bektaş; Yılmaz Bülbül; Savaş Özsu; Tevfik Özlü
Journal:  Turk Thorac J       Date:  2014-11-05

2.  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

  2 in total

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