Early death in two sisters with Hennekam syndrome.
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 and the expansion of the phenotype of the Hennekam syndrome.
Dipartimento di Pediatria, University of Naples, Federico II, Italy. aldscarc@unina.it
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Scarcella
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De Lucia
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MB
Pasquariello
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P
Gambardella
D000015:Abnormalities, Multiple / Q000175:diagnosis / Q000235:genetics* / Q000401:mortality* / Q000473:pathology; D005145:Face / Q000002:abnormalities / Q000473:pathology; D005192:Family Health; D005260:Female; D005808:Genes, Recessive; D006801:Humans; D007037:Hypothyroidism / Q000235:genetics / Q000401:mortality / Q000473:pathology; D007223:Infant; D007422:Intestines / Q000002:abnormalities / Q000473:pathology; D010641:Phenotype; D011504:Protein-Losing Enteropathies / Q000235:genetics / Q000401:mortality / Q000473:pathology; D011707:Pyloric Stenosis / Q000235:genetics / Q000401:mortality / Q000473:pathology; D013577:Syndrome