1. Eyebrow anomalies as a diagnostic sign of genomic disorders.
- Author
-
Silengo M, Belligni E, Molinatto C, Baldassarre G, Biamino E, Chiesa N, Zuffardi O, Girirajan S, Eichler EE, and Ferrero GB
- Subjects
- Abnormalities, Multiple genetics, Humans, Phenotype, Eyebrows abnormalities, Genetic Diseases, Inborn diagnosis
- 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.
- Published
- 2010
- Full Text
- View/download PDF