Arnold-Chiari type 1 malformation in Potocki–Lupski syndrome

Alberto Varon, Zachary Whitt, Paige M. Kalika, Lorraine Potocki, Deborah S. Barbouth, Katherina Walz

Research output: Contribution to journalArticlepeer-review

1 Scopus citations


Potocki–Lupski syndrome (PTLS) is a genetic disorder that results from an interstitial duplication within chromosome 17p11.2. Children with PTLS typically present with infantile hypotonia, failure to thrive, and global developmental delay with or without major organ system involvement. Systematic clinical studies regarding growth, cardiovascular disease, and neurocognitive profiles have been published; however, systematic evaluation of central nervous system structure by magnetic resonance imaging (MRI) of the brain has not been reported. Herein, we describe three patients with PTLS who were found—in the course of routine clinical care—to have a type 1 Arnold-Chiari malformation (CM-1). This finding raises the question of whether the incidence of CM-1 is increased in PTLS, and hence, if an MRI of the brain should be considered in the evaluation of all patients with this chromosomal duplication syndrome.

Original languageEnglish (US)
Pages (from-to)1366-1370
Number of pages5
JournalAmerican Journal of Medical Genetics, Part A
Issue number7
StatePublished - Jul 2019


  • Arnold-Chiari
  • PTLS
  • sleep apnea

ASJC Scopus subject areas

  • Genetics
  • Genetics(clinical)


Dive into the research topics of 'Arnold-Chiari type 1 malformation in Potocki–Lupski syndrome'. Together they form a unique fingerprint.

Cite this