Objectives: The aim of this paper is a quantitative assessment of FASD facial phenotype in the Polish population using the Polish version of the 4-Digit Diagnostic Code.
Methods: The study covered 2 groups of children: 30 children aged 4-7 and 30 children aged 8-11 with a facial phenotype characteristic for the Fetal Alcohol Syndrome (FAS). The control group consisted of 60 children (4-11 years old) developing normally. We compared 3 facial features (small palpebral fissure lengths, smooth philtrum and thin upper lip). The repeatability, conformity and diagnostic accuracy of particular dysmorphic features of the study were assessed.
Results: Obtained values for palpebral fissure were "poor", "good" and "very good", for philtrum "good" and "very good" and for upper lip "good" and "very good". As for conformity, values for palpebral fissure were "moderate" and 'good", for philtrum - "good" and for upper lip also "good". In the experimental group, the FAS diagnostic criteria were met by 13 subjects, partial FAS criteria were met by 37 subjects and the criteria of static encephalopathy with no FAS phenotype were met by 2 subjects. None of the subjects in the control group met these criteria.
Conclusions: The pictorial scale for the assessment of the facial dysmorphic features proved to be a useful tool in the clinical diagnostics of FAS in the Polish conditions. Due to the problems associated with the measurement of the palpebral fissure, it is necessary to verify the normal growth charts for the Polish population.
Keywords: 4-Digit Diagnostic Code; facial dysmorphic features; fetal alcohol syndrome.