Expansion of the phenotype in Hennekam syndrome: a case with new manifestations.
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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Child Evaluation Center, Department of Pediatrics, University of Louisville, Kentucky 40202, USA.
Hersh
J H
JH
D000015:Abnormalities, Multiple / Q000235:genetics*; D019465:Craniofacial Abnormalities / Q000235:genetics; D005260:Female; D005808:Genes, Recessive; D006801:Humans; D007231:Infant, Newborn; D008607:Intellectual Disability / Q000235:genetics*; D008201:Lymphangiectasis, Intestinal / Q000151:congenital / Q000235:genetics*; D008209:Lymphedema / Q000151:congenital / Q000235:genetics*; D010641:Phenotype; D013577:Syndrome