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

• Published in: American journal of medical genetics. Part A Vol. 173; no. 3; pp. 638 - 646
• Main Authors: Tucci, Arianna, Pezzani, Lidia, Scuvera, Giulietta, Ronzoni, Luisa, Scola, Elisa, Esposito, Susanna, Milani, Donatella
• Format: Journal Article
• Language: English
• Published: United States Wiley Subscription Services, Inc 01.03.2017
• Subjects: Adolescent; Brain - pathology; brain MRI; Case reports; Child, Preschool; Comparative Genomic Hybridization; cutis verticis gyrata; epilepsy; Facies; Female; Humans; Intellectual disabilities; intellectual disability; Intellectual Disability - diagnosis; Intellectual Disability - etiology; Magnetic Resonance Imaging; Male; Phenotype; psychomotor delay; Psychomotor Performance; Puberty; Radiography; Scalp; Scalp Dermatoses - diagnosis; Scalp Dermatoses - etiology; Severity of Illness Index; Skin; Syndrome; epilepsy; brain MRI; cutis verticis gyrata; psychomotor delay; intellectual disability
• ISSN: 1552-4825; 1552-4833; 1552-4833
• DOI: 10.1002/ajmg.a.38054

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.