A case definition and photographic screening tool for the facial phenotype of fetal alcohol syndrome,☆☆,,★★

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Abstract

OBJECTIVES: The purpose of this study was to demonstrate that a quantitative, multivariate case definition of the fetal alcohol syndrome (FAS) facial phenotype could be derived from photographs of individuals with FAS and to demonstrate how this case definition and photographic approach could be used to develop efficient, accurate, and precise screening tools, diagnostic aids, and possibly surveillance tools. STUDY DESIGN: Frontal facial photographs of 42 subjects (from birth to 27 years of age) with FAS were matched to 84 subjects without FAS. The study population was randomly divided in half. Group 1 was used to identify the facial features that best differentiated individuals with and without FAS. Group 2 was used for cross validation. RESULTS: In group 1, stepwise discriminant analysis identified three facial features (reduced palpebral fissure length/inner canthal distance ratio, smooth philtrum, and thin upper lip) as the cluster of features that differentiated individuals with and without FAS in groups 1 and 2 with 100% accuracy. Sensitivity and specificity were unaffected by race, gender, and age. CONCLUSIONS: The phenotypic case definition derived from photographs accurately distinguished between individuals with and without FAS, demonstrating the potential of this approach for developing screening, diagnostic, and surveillance tools. Further evaluation of the validity and generalizability of this method will be needed. (J PEDIATR 1996;129:33-41)

Section snippets

Overview

Frontal facial photographs of 42 subjects with FAS (birth to 27 years of age) were pair matched on age, race, and gender to the frontal facial photographs of two randomly selected subjects without FAS (n = 84). The 126 patients were randomly divided into two groups (n = 63 per group) balanced on age, gender, and race. Stepwise discriminant analysis was used to identify the facial feature(s) that best differentiated the subjects with and without FAS in group 1. The multivariate discriminant

RESULTS

The total population of 42 subjects with FAS and 84 control subjects were successfully balanced on gender, race, and age at the time the photograph was taken (Table II). The age distribution of the study population was as follows: birth to 2 months (n = 1), 3 to 12 months (n = 4), 1 to 5 years (n = 43), 6 to 10 years (n = 46), 11 to 15 years (n = 22), 16 to 20 years (n = 6), and 20+ years (n = 4). No two subjects with FAS had an identical pattern of facial features. The variation of phenotypic

DISCUSSION

This study has demonstrated that a phenotypic case definition of FAS can be derived from frontal facial photographs of individuals with FAS. It has also illustrated how this case-definition and methodologic approach can be used to develop an accurate and precise screening tool and diagnostic aid. The discriminating cluster of facial features identified from the photographs are identical to the facial features identified by direct facial measurement in a previous study,7 thus supporting the

Acknowledgements

We express our thanks to Cliff Astley for his computer programming support, Erik McArthur for the computer capture of all photographic images, and Ann P. Streissguth, PhD, and Hans-Ludwig Spohr, MD, for their contribution of photographs to this study.

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From the Department of Epidemiology, School of Public Health and Community Medicine, and the Department of Pediatrics, School of Medicine, University of Washington, Seattle

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Supported in part by the Chevez FAS Fund at Children's Hospital and Medical Center, Seattle, Wash.

Reprint requests: Susan J. Astley, PhD, Children's Hospital and Medical Center, 4800 Sand Point Way N.E., Seattle WA 98105.

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