Eyebrow anomalies as a diagnostic sign of genomic disorders

Authors

Errata

This article is corrected by:

  1. Errata: Erratum Volume 77, Issue 4, 408, Article first published online: 16 March 2010

Margherita Silengo, Department of Pediatrics, University of Torino Piazza Polonia 94, Turin 10126 Italy. Tel.: +39113135689; fax: +39113135371; e-mail: margherita.cirillosilengo@unito.it

Abstract

Silengo M, Belligni E, Molinatto C, Baldassare G, Biamino E, Chiesa N, Zuffardi O, Girirajan S, Eichler EE, Ferrero GB. Eyebrow anomalies as a diagnostic sign of genomic disorders.

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 ‘acial 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.

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