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 '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.
Silengo
M
M
Department of Pediatrics, University of Torino, Torino, Italy. margherita.cirillosilengo@unito.it
Belligni
E
E
Molinatto
C
C
Baldassarre
G
G
Baldassare
G
G
Biamino
E
E
Chiesa
N
N
Zuffardi
O
O
Girirajan
S
S
Eichler
E E
EE
Ferrero
G B
GB
D000015:Abnormalities, Multiple / Q000235:genetics; D005138:Eyebrows / Q000002:abnormalities*; D030342:Genetic Diseases, Inborn / Q000175:diagnosis*; D006801:Humans; D010641:Phenotype