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

B Angle; J H Hersh

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

Am J Med Genet. 1997 Aug 8;71(2):211-4.

Authors

B Angle¹, J H Hersh

Affiliation

¹ Child Evaluation Center, Department of Pediatrics, University of Louisville, Kentucky 40202, USA.

PMID: 9217224

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.

Publication types

Case Reports

MeSH terms

Abnormalities, Multiple / genetics*
Craniofacial Abnormalities / genetics
Female
Genes, Recessive
Humans
Infant, Newborn
Intellectual Disability / genetics*
Lymphangiectasis, Intestinal / congenital
Lymphangiectasis, Intestinal / genetics*
Lymphedema / congenital
Lymphedema / genetics*
Phenotype
Syndrome