Prenatal diagnosis of Potocki-Lupski syndrome in a fetus with hypoplastic left heart and aberrant right subclavian artery

J Perinatol. 2013 May;33(5):394-6. doi: 10.1038/jp.2012.77.

Abstract

Potocki-Lupski syndrome (PTLS) is a rare genetic disorder associated with neurodevelopmental delay and heart defects. We report the first case of prenatal diagnosis of PTLS in a fetus with hypoplastic left heart and aberrant right subclavian artery. Detection of a fetal heart defect should be followed by chromosomal and genetic studies in order to rule out fetal aneuploidy and/or associated genetic syndromes with significant implications for the treatment of children with PTLS.

Publication types

  • Case Reports
  • Research Support, Non-U.S. Gov't

MeSH terms

  • Abnormalities, Multiple
  • Aneurysm / diagnostic imaging*
  • Cardiovascular Abnormalities / diagnostic imaging*
  • Chromosome Disorders
  • Chromosome Duplication
  • Deglutition Disorders / diagnostic imaging*
  • Early Diagnosis
  • Fatal Outcome
  • Female
  • Fetal Diseases / diagnostic imaging
  • Humans
  • Hypoplastic Left Heart Syndrome / diagnostic imaging*
  • Infant, Newborn
  • Pregnancy
  • Smith-Magenis Syndrome / diagnostic imaging*
  • Subclavian Artery / abnormalities
  • Subclavian Artery / diagnostic imaging
  • Ultrasonography, Prenatal

Supplementary concepts

  • Aberrant subclavian artery
  • Potocki-Lupski syndrome