Anthropometric evaluation of dysmorphology in craniofacial anomalies: Treacher Collins syndrome

Advances in surgical techniques for correction of craniofacial anomalies have necessitated the development of objective pre- and postoperative quantitative assessments. Standard anthropometric techniques, supplemented by additional methods oriented to specific clinical problems, have proved useful in defining surface dysmorphology in craniofacial patients. A series of 77 surface measurements of the head and face and 41 proportions were determined in 20 preoperative patients with Treacher Collins syndrome, a rare congenital defect of the first and second branchial arches. To permit comparison with age- and sex-specific data for healthy North American children, the patient data were converted to standard (Z) scores. To test the hypothesis Z = 0, Student's t-test was performed on all variables. The anthropometric findings verified many of the clinical findings in this syndrome. In addition, a number of previously unreported defects were found. The cranium was low and short with a low, narrow forehead and a narrow cranial base. The face was narrow and shallow, the mandible long and narrow, and the lower face receding. The eye fissures were short with an antimongoloid inclination, but the orbits were hyperteloric. The nasal root was high and wide, the nasofrontal angle open, and the bridge inclination low. The labial fissure was narrow, and the ears were microtic. Except in the nasal root the defects were hypoplastic. Most of these defects were either horizontal or anteroposterior. Recognition of the defective areas and their contribution to disproportions of the head and face is important in the development of surgical strategies.