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 journalArticle

Abstract

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)
JournalAmerican Journal of Medical Genetics, Part A
DOIs
StatePublished - Jan 1 2019

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Arnold-Chiari Malformation
Chromosome Duplication
Magnetic Resonance Imaging
Failure to Thrive
Inborn Genetic Diseases
Muscle Hypotonia
Brain
Cardiovascular Diseases
Central Nervous System
Incidence
Growth

Keywords

  • Arnold-Chiari
  • PTLS
  • sleep apnea

ASJC Scopus subject areas

  • Genetics(clinical)

Cite this

Arnold-Chiari type 1 malformation in Potocki–Lupski syndrome. / Varon, Alberto; Whitt, Zachary; Kalika, Paige M.; Potocki, Lorraine; Barbouth, Deborah S; Walz, Katherina.

In: American Journal of Medical Genetics, Part A, 01.01.2019.

Research output: Contribution to journalArticle

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