title: Eyebrow anomalies as a diagnostic sign of genomic disorders.
abstract: Microdeletions and microduplications in the human genome, termed genomic disorders, contribute to a high proportion of human multisystemic neurodevelopmental diseases and are detected by array-based comparative genomic hybridization (aCGH). In general, most genomic disorders are associated with craniofacial and skeletal features and behavioural abnormalities, in addition to learning disability and developmental delay (LD/DD). Specifically, recognition of a characteristic 'facial gestalt' has been the key to distinguish one genomic disorder from the other. Here, we report our experience concerning the relevance of abnormal eyebrow pattern as a diagnostic indicator of specific genomic disorders.
authors.affiliation: Department of Pediatrics, University of Torino, Torino, Italy. margherita.cirillosilengo@unito.it
authors.forename: M
authors.initials: M
authors.lastname: Silengo
authors.forename: E
authors.initials: E
authors.lastname: Belligni
authors.forename: C
authors.initials: C
authors.lastname: Molinatto
authors.forename: G
authors.initials: G
authors.lastname: Baldassarre
authors.forename: G
authors.initials: G
authors.lastname: Baldassare
authors.forename: E
authors.initials: E
authors.lastname: Biamino
authors.forename: N
authors.initials: N
authors.lastname: Chiesa
authors.forename: O
authors.initials: O
authors.lastname: Zuffardi
authors.forename: S
authors.initials: S
authors.lastname: Girirajan
authors.forename: E E
authors.initials: EE
authors.lastname: Eichler
authors.forename: G B
authors.initials: GB
authors.lastname: Ferrero
mesh_terms: D000015:Abnormalities, Multiple / Q000235:genetics; D005138:Eyebrows / Q000002:abnormalities*; D030342:Genetic Diseases, Inborn / Q000175:diagnosis*; D006801:Humans; D010641:Phenotype