Applications of pattern profile analysis to malformations of the head and face

Abstract

The craniofacial pattern profile approach to dysmorphogenesis syndromes affecting the head and face combines graphic and numerical measures of pattern variability and pattern comparison. Selected dimensions of the head and face are expressed as Z-scores (standard deviation units) relative to standards for age and sex. As with the metacarpophalangeal pattern profile, this method identifies highly deviant but undiagnosed patterned departures from normal and allows comparison with individuals or groups of individuals with known diagnoses.