The facial phenotype of the velo-cardio-facial syndrome

Sydney C. Butts

doi:10.1016/j.ijporl.2008.10.011

The facial phenotype of the velo-cardio-facial syndrome

Sydney C. Butts

Otolaryngology

SUNY Downstate Health Sciences University

Research output: Contribution to journal › Review article › peer-review

28 Scopus citations

Abstract

Velo-cardio-facial syndrome (VCFS) is a genetic disorder that is common but often variable in its expression. Several key organ systems are most often affected, including the craniofacial skeleton and soft tissues. Identification of the associated facial features will aid in the improved detection of patients. This review aims to highlight the approaches to facial analysis that are essential to the detection of the facial dysmorphisms in velo-cardio-facial syndrome, many of which may be subtle.

Original language	English
Pages (from-to)	343-350
Number of pages	8
Journal	International Journal of Pediatric Otorhinolaryngology
Volume	73
Issue number	3
DOIs	https://doi.org/10.1016/j.ijporl.2008.10.011
State	Published - Mar 2009

Keywords

Asymmetric crying facies
Conotruncal anomaly face syndrome
DiGeorge syndrome
Long face syndrome
Platybasia
Velopharyngeal insufficiency

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10.1016/j.ijporl.2008.10.011

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abstract = "Velo-cardio-facial syndrome (VCFS) is a genetic disorder that is common but often variable in its expression. Several key organ systems are most often affected, including the craniofacial skeleton and soft tissues. Identification of the associated facial features will aid in the improved detection of patients. This review aims to highlight the approaches to facial analysis that are essential to the detection of the facial dysmorphisms in velo-cardio-facial syndrome, many of which may be subtle.",

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AB - Velo-cardio-facial syndrome (VCFS) is a genetic disorder that is common but often variable in its expression. Several key organ systems are most often affected, including the craniofacial skeleton and soft tissues. Identification of the associated facial features will aid in the improved detection of patients. This review aims to highlight the approaches to facial analysis that are essential to the detection of the facial dysmorphisms in velo-cardio-facial syndrome, many of which may be subtle.

KW - Asymmetric crying facies

KW - Conotruncal anomaly face syndrome

KW - DiGeorge syndrome

KW - Long face syndrome

KW - Platybasia

KW - Velopharyngeal insufficiency

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JO - International Journal of Pediatric Otorhinolaryngology

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ER -

The facial phenotype of the velo-cardio-facial syndrome

Abstract

Keywords

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