Face Anthropometric Pattern Recognition Technology, Based on 3D Reconstruction Technology, for Computer Aided Diagnosis of Human Genetic Disorders. Multicenter Collaborative Study.

Summary of Relevant Background Studies: Congenital anomalies play a major role in pediatric care. One of the leading causes of infant mortality in developed countries is the sequelae of these congenital anomalies. In some cases this exceeds the death rate for prematurity, SIDS, and other common causes of infant or neonatal death. The available tools for the assessment of a dysmorphic infant or child are based mainly on the experience of the examiner and his ability to translate findings and measurements from the physical examination to a qualitative and quantitative summary of accepted values plotted for the corresponding age (1,2). Various unusual features are expressed in qualitative terms such as short stature, long fingers, pear-shaped nose, small ears or other terms, which imply a comparison with other body proportions and the subjective impression of the examiner. Following that, an impression of the patient as a 'gestalt' is formed in the examiner's mind.

The databases and most of the written material are descriptive with scarce graphic and photographs, making the comparison of the phenotypic expression of the described subject with the one that needs to be diagnosed a difficult one. Even with the extensive existing data on objective measurements available to characterize a phenotype, many of the physicians involved in the diagnosis of a specific case will base part of their diagnosis on "it looks like" and put that impression in the context of other physical and laboratory findings.

Many syndromes in human pathology are recognized by their unique and distinctive facial and body characteristics. These stereotypic phenotypic characteristics are mostly reproducible using anthropometric measurements.

Charts are available for nor+mal data values of various morphometric variables (1,2). However, some of these figures can be accurately measured only on 3D structures (head, face). The following figure demonstrates the measurement of the angle of the palpebral fissure:

Fig. 1: An upward obliquity to the palpebral fissures is known as a mongoloid slant while downward obliquity is referred to as an antimongoloid slant. In order to obtain such measurements within the uterus a 3D configuration and appropriate image analysis is necessary (Figure from Ref. 2).