Anthropometric analysis of the face in hypohidrotic ectodermal dysplasia: a family study

Sixteen individuals with hypohidrotic ectodermal dysplasia (HED) were compared to normal standards as well as to 16 unaffected family members by using a series of 20 anthropometric measurements of the head and face. Individuals with HED were generally smaller than normal controls or their unaffected relatives. However, this size reduction was not uniform. Instead, it was most evident in the anterior-posterior dimensions of the lower two-thirds of the face, in facial height, and in the size of the ears, nose, and mouth. A stepwise discriminant function analysis indicated that a function constructed from four variables (depth of the lower face, width of the nose, mandibular arc, and total facial height) could accurately classify 96.7% of the 32 individuals in the combined sample of affected and unaffected individuals. These findings demonstrated that the face of individuals with HED is unique and can be useful in its diagnosis. Additional studies are needed to determine if similar-though-less-pronounced facial abnormalities can be used to detect minimally affected gene carriers of this presumably X-linked condition.