Is cutis verticis Gyrata-Intellectual Disability syndrome an underdiagnosed condition? A case report and review of 62 cases

Am J Med Genet A. 2017 Mar;173(3):638-646. doi: 10.1002/ajmg.a.38054. Epub 2016 Dec 25.

Abstract

Cutis Verticis Gyrata-Intellectual Disability (CVG-ID) syndrome is a rare neurocutaneous syndrome characterized by intellectual disability and scalp folds and furrows that are typically absent at birth and are first noticed after puberty. First reported in 1893, the syndrome was mainly identified in subjects living in psychiatric institutions, where it was found to have a prevalence of up to 11.4%. Most patients were reported in the literature during the first half of the 20th century. CVG-ID is now a less reported and possibly under-recognized syndrome. Here, we report a patient with CVG-ID that was diagnosed using the novel approach of magnetic resonance imaging and we conduct a systematic review of all patients reported in the last 60 years, discussing the core clinical features of this syndrome. © 2016 Wiley Periodicals, Inc.

Keywords: brain MRI; cutis verticis gyrata; epilepsy; intellectual disability; psychomotor delay.

Publication types

  • Case Reports
  • Review
  • Systematic Review

MeSH terms

  • Adolescent
  • Brain / pathology
  • Child, Preschool
  • Comparative Genomic Hybridization
  • Facies
  • Female
  • Humans
  • Intellectual Disability / diagnosis*
  • Intellectual Disability / etiology
  • Magnetic Resonance Imaging
  • Male
  • Phenotype
  • Psychomotor Performance
  • Radiography
  • Scalp Dermatoses / diagnosis*
  • Scalp Dermatoses / etiology
  • Severity of Illness Index
  • Syndrome

Supplementary concepts

  • Cutis Verticis Gyrata and Mental Deficiency