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 desc ribed in this autosomal recessive disorder, i.e., primary hypothyroidism, h ypertrophic pyloric stenosis, and an early fatal outcome. These cases suppo rt the autosomal recessive transmission and the expansion of the phenotype of the Hennekam syndrome. Am. J, Med. Genet. 93:181-183, 2000. (C) 2000 Wil ey-Liss, Inc.