We assessed whether there is a recognisable pattern of facial morphology in photographs of a series of 62 children with idiopathic congenital talipes equinovarus (CTEV). Photographs were scored for a number of facial characteristics by a research team comprising orthopaedic surgeons and clinical geneticists, to identify a subgroup of children with idiopathic CTEV, who shared characteristic facial features. Seven children were identified as having a "CTEV face". There was good correlation between the "CTEV face" and the individual facial features. Repeatability of the assessment was good, and there was good correlation between the geneticists and the orthopaedic surgeons, suggesting that no special training in dysmorphology is required to identify the "CT EV face". There is a subgroup of children with idiopathic CTEV who can be reliably identified by their facial characteristics. The significance of this finding is unclear but it may be of use in clinical genetic studies, and studies of the aetiology of CTEV.

Facial features in children with idiopathic congenital talipes equinovarus.

MAFFULLI, Nicola
2009

Abstract

We assessed whether there is a recognisable pattern of facial morphology in photographs of a series of 62 children with idiopathic congenital talipes equinovarus (CTEV). Photographs were scored for a number of facial characteristics by a research team comprising orthopaedic surgeons and clinical geneticists, to identify a subgroup of children with idiopathic CTEV, who shared characteristic facial features. Seven children were identified as having a "CTEV face". There was good correlation between the "CTEV face" and the individual facial features. Repeatability of the assessment was good, and there was good correlation between the geneticists and the orthopaedic surgeons, suggesting that no special training in dysmorphology is required to identify the "CT EV face". There is a subgroup of children with idiopathic CTEV who can be reliably identified by their facial characteristics. The significance of this finding is unclear but it may be of use in clinical genetic studies, and studies of the aetiology of CTEV.
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Utilizza questo identificativo per citare o creare un link a questo documento: http://hdl.handle.net/11386/4204682
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