Anthropometric evaluation of dysmorphology in craniofacial anomalies: Treacher Collins syndrome

Abstract

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.

Preoperative anthropometric dysmorphology in metopic synostosis

“…1), ranging in age from 2-69 months (x 5 17.5 months). The patients were assessed using a set of 24 anthropometric measurements of the head and face derived from a much larger assessment battery, which has been presented previously (Kolar et al, 1987;Kolar and Salter, 1996) (Fig. 2).…”

“…scores to adjust for age and sex. The standardized data for each variable were pooled, mean Z scores and standard deviations were calculated for each variable, and the results were analyzed using Student's t-test (Kolar et al, 1987). The entire sample was compared to normal standards using a single-sample t-test (Campbell, 1989) to test the null hypothesis (xZ x 5 0).…”

“…2). From these, 11 proportion indices were calculated to evaluate craniofacial shape (Csima and Szathmá ry, 1987;Farkas and Munro, 1987). All measurements were taken by one of the authors (J.C.K.…”

Combined soft and skeletal tissue modelling of normal and dysmorphic midface postnatal development

“…3A). As a whole, this individual exhibits midfacial, orbital, and zygomatic hypoplasia that is typical of TCS dysmorphism (Kolar et al, 1985, 1987). These typical features were similarly demonstrated using a dynamic morph of an older 12 year-old TCS individual (Video 4).…”

Treacher Collins syndrome: Phenotypic variability in a family including an infant with arhinia and uveal colobomas

“…The findings in the Treacher Collins syndrome (TCS) were first described in the Western medical literature in 1889 [Berry, 18891. Since then, many cases have been documented and a wide spectrum of expression noted among affected individuals even within the same family [Franceschetti and Klein, 1940;Rogers, 1964;Marsh et al, 1986;Kolar et al, 1987;Peterson-Falzone and Figueroa, 1989;Kreiborg and Dahl, 19931. We were unable to find another reported case with the phenotypic severity of this child.…”