Early death in two sisters with Hennekam syndrome

Am J Med Genet. 2000 Jul 31;93(3):181-3. doi: 10.1002/1096-8628(20000731)93:3<181::aid-ajmg3>3.0.co;2-b.

Abstract

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.

Publication types

  • Case Reports

MeSH terms

  • Abnormalities, Multiple / diagnosis
  • Abnormalities, Multiple / genetics*
  • Abnormalities, Multiple / mortality*
  • Abnormalities, Multiple / pathology
  • Face / abnormalities
  • Face / pathology
  • Family Health
  • Female
  • Genes, Recessive
  • Humans
  • Hypothyroidism / genetics
  • Hypothyroidism / mortality
  • Hypothyroidism / pathology
  • Infant
  • Intestines / abnormalities
  • Intestines / pathology
  • Phenotype
  • Protein-Losing Enteropathies / genetics
  • Protein-Losing Enteropathies / mortality
  • Protein-Losing Enteropathies / pathology
  • Pyloric Stenosis / genetics
  • Pyloric Stenosis / mortality
  • Pyloric Stenosis / pathology
  • Syndrome