Facial dysmorphology, roentgenographic measurements, and clinical genetics

Roentgenographic measurements are used in the facial diagnosis of a male patient (proband) and his mother with unusual craniofacies. Twenty-four measurements (from both the PA and LA x-ray headplates) defining the major anatomic areas of the head and face were chosen as the overall descriptors for the characterization and recognition of craniofacial pattern profile (CFPP). The measurements were transformed into Z-scores. By using the sigma z (i.e., standard deviation of the z-scores) value, the CFPP deviations were estimated. The proband and mother have aberrant, i.e., dysmorphic, craniofacial pattern profiles. The proband's CFPP is highly stable at two successive ages (6 and 13 years, respectively); only the cranial base and palatal dimensions are becoming increasingly abnormal and asymmetric. Familial as well as syndromic CFPP similarities were assessed. Results of correlation coefficients rz demonstrate a significantly high level of CFPP similarity between the proband and mother. This strongly suggests that the two are the carriers of the same genetic syndrome. Unusual syndrome-specific facial features shared by the two include abnormally large midface, very high-set and widely placed eyes, retrusive and asymmetric upper alveolar region, very small malar bones, and long mastoid processes.