A new autosomal recessive syndrome with Zellweger-like manifestations.

  title={A new autosomal recessive syndrome with Zellweger-like manifestations.},
  author={Joe K Ahn and Dorit Lev and Esther Leshinsky-Silver and Mira Ginzberg and Tally Lerman-Sagie},
  journal={American journal of medical genetics. Part A},
  volume={119A 3},
A son and daughter of consanguineous Ashkenazi Jewish parents presented with phenotypic features that are typically seen in Zellweger syndrome: high forehead, broad nasal bridge, epicanthal fold, upslanting palpebral fissures, and micrognathia. In addition to the physical anomalies, they also have severe psychomotor retardation and hypotonia. However, results of peroxisomal studies including very long chain fatty acids and plasmalogen functions, were normal. There was partial deficiency of… CONTINUE READING