J Med Genet 31:969-971 doi:10.1136/jmg.31.12.969
  • Research Article

Progressive hemifacial atrophy with agenesis of the head of the caudate nucleus.

  1. M Leäo,
  2. M L da Silva
  1. Department of Medical Genetics, Faculty of Medicine, Hospital S. Joäo, Porto, Portugal.


      We describe a woman with right hemifacial atrophy, a high palate, partial left motor seizures, and mild atrophy of the left arm. CT scan showed asymmetrical lateral ventricles and MRI (magnetic resonance imaging) showed atrophy of the right cerebral hemisphere and agenesis of the head of the right caudate nucleus. To our knowledge, this is the first report of Parry-Romberg syndrome associated with structural abnormalities of the basal nuclei documented by MRI. We suggest that a neurovascular aetiology can explain the spectrum of segmental defects associated with hemifacial atrophy.