Rhizomelia with anal atresia and anophthalmia: a new syndrome?

Clin Dysmorphol. 2008 Jan;17(1):53-56. doi: 10.1097/MCD.0b013e3282ef9592.

Abstract

We report a newborn who presented with an unreported combination of anophthalmia, anal atresia, rhizomelia, dextrocardia and corpus callosum agenesis. Clinical and postmortem findings did not match any previously described syndromes with the type of anomalies seen in this patient. We suggested that this combination of congenital malformations might represent a new syndrome.

Publication types

  • Case Reports

MeSH terms

  • Abnormalities, Multiple / pathology*
  • Anophthalmos / pathology*
  • Anus, Imperforate / pathology*
  • Female
  • Humans
  • Infant, Newborn
  • Karyotyping
  • Limb Deformities, Congenital / pathology*
  • Male
  • Pedigree
  • Syndrome