Article
Early death in two sisters with Hennekam syndrome.
American journal of medical genetics - 31 Jul 2000
Scarcella A, De Lucia A, Pasquariello M B, Gambardella P
Abstract excerpt
We report on two sisters with facial anomalies, protein-losing enteropathy, and intestinal lymphangiectasia consistent with the diagnosis of Hennekam syndrome. Both patients had a number of other anomalies not previously described in this autosomal recessive disorder, i.e., primary hypothyroidism, hypertrophic pyloric stenosis, and an early fatal outcome. These cases support the autosomal recessive transmission...
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