Abnormal brain magnetic resonance imaging in two patients with Smith-Magenis syndrome

Idit Maya*, Chana Vinkler, Osnat Konen, Liora Kornreich, Tamar Steinberg, Josepha Yeshaya, Victoria Latarowski, Mordechai Shohat, Dorit Lev, Hagit N. Baris

*Corresponding author for this work

Research output: Contribution to journalArticlepeer-review


Smith-Magenis syndrome (SMS) is a clinically recognizable contiguous gene syndrome ascribed to an interstitial deletion in chromosome 17p11.2. Seventy percent of SMS patients have a common deletion interval spanning 3.5 megabases (Mb). Clinical features of SMS include characteristic mild dysmorphic features, ocular anomalies, short stature, brachydactyly, and hypotonia. SMS patients have a unique neurobehavioral phenotype that includes intellectual disability, self-injurious behavior and severe sleep disturbance. Little has been reported in the medical literature about anatomical brain anomalies in patients with SMS. Here we describe two patients with SMS caused by the common deletion in 17p11.2 diagnosed using chromosomal microarray (CMA). Both patients had a typical clinical presentation and abnormal brain magnetic resonance imaging (MRI) findings. One patient had subependymal periventricular gray matter heterotopia, and the second had a thin corpus callosum, a thin brain stem and hypoplasia of the cerebellar vermis. This report discusses the possible abnormal MRI images in SMS and reviews the literature on brain malformations in SMS. Finally, although structural brain malformations in SMS patients are not a common feature, we suggest baseline routine brain imaging in patients with SMS in particular, and in patients with chromosomal microdeletion/microduplication syndromes in general. Structural brain malformations in these patients may affect the decision-making process regarding their management.

Original languageEnglish
Pages (from-to)1940-1946
Number of pages7
JournalAmerican Journal of Medical Genetics, Part A
Issue number8
StatePublished - Aug 2014


  • Hypoplasia of the cerebellar vermis
  • Magnetic resonance imaging
  • Periventricular heterotopia
  • Smith-Magenis syndrome
  • Thin brain stem
  • Thin corpus callosum


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