Variations in facial soft tissues of italian individuals with ectodermal dysplasia

To supply quantitative information about the facial soft tissues of patients with ectodermal dysplasia (ED).

The three-dimensional coordinates of soft tissue facial landmarks were obtained using an electromagnetic digitizer in 20 Caucasian patients with ED (11 male and 9 female patients aged 7 to 41 years) and 391 healthy controls (163 female and 228 male subjects of comparable ages). From the landmarks, 15 facial dimensions and two angles were calculated. Data were compared with those collected in healthy individuals by computing z-scores. Two summary anthropometric measurements for quantifying craniofacial variations were assessed in both the patients and reference subjects: the mean z-score (an index of overall facial size) and its standard deviation, called the craniofacial variability index (an index of facial harmony).

In patients with ED, a large variability was found for both the mean z-score and the craniofacial variability index. On average, the patients had a somewhat smaller facial size than the normal individuals, with a global disharmonious appearance. Overall, 70% of patients fell outside the quantitative definitions for normal facial size, harmony or both. When examining the distribution of the single z-scores of the 17 selected measurements, variable patterns were found, without consistent effects of age or sex.

The facial soft tissue structures of patients with ED differed both in size and shape from those of normal controls of the same age, sex, and ethnic group.