Anthropometric precision and accuracy of digital three-dimensional photogrammetry: comparing the Genex and 3dMD imaging systems with one another and with direct anthropometry.

A variety of commercially available three-dimensional (3D) surface imaging systems are currently in use by craniofacial specialists. Little is known, however, about how measurement data generated from alternative 3D systems compare, specifically in terms of accuracy and precision. The purpose of this study was to compare anthropometric measurements obtained by way of two different digital 3D photogrammetry systems (Genex and 3dMD) as well as direct anthropometry and to evaluate intraobserver precision across these three methods. On a sample of 18 mannequin heads, 12 linear distances were measured twice by each method. A two-factor repeated measures analysis of variance was used to test simultaneously for mean differences in precision across methods. Additional descriptive statistics (e.g., technical error of measurement [TEM]) were used to quantify measurement error magnitude. Statistically significant (P < 0.05) mean differences were observed across methods for nine anthropometric variables; however, the magnitude of these differences was consistently at the submillimeter level. No significant differences were noted for precision. Moreover, the magnitude of imprecision was determined to be very small, with TEM scores well under 1 mm, and intraclass correlation coefficients ranging from 0.98 to 1. Results indicate that overall mean differences across these three methods were small enough to be of little practical importance. In terms of intraobserver precision, all methods fared equally well. This study is the first attempt to simultaneously compare 3D surface imaging systems directly with one another and with traditional anthropometry. Results suggest that craniofacial surface data obtained by way of alternative 3D photogrammetric systems can be combined or compared statistically.

Trismus-pseudocamptodactyly syndrome is caused by recurrent mutation of MYH8.

Trismus-pseudocamptodactyly syndrome (TPS) is a rare autosomal dominant distal arthrogryposis (DA) characterized by an inability to open the mouth fully (trismus) and an unusual camptodactyly of the fingers that is apparent only upon dorsiflexion of the wrist (i.e., pseudocamptodactyly). TPS is also known as Dutch-Kentucky syndrome because a Dutch founder mutation is presumed to be the origin of TPS cases in the Southeast US, including Kentucky. To date only a single mutation, p.R674Q, in MYH8 has been reported to cause TPS. Several individuals with this mutation also had a so-called "variant" of Carney complex, suggesting that the pathogenesis of TPS and Carney complex might be shared. We screened MYH8 in four TPS pedigrees, including the original Dutch family in which TPS was reported. All four TPS families shared the p.R674Q substitution. However, haplotype analysis revealed that this mutation has arisen independently in North American and European TPS pedigrees. None of the individuals with TPS studied had features of Carney complex, and p.R674Q was not found in 49 independent cases of Carney complex that were screened. Our findings show that distal arthrogryposis syndromes share a similar pathogenesis and are, in general, caused by disruption of the contractile complex of muscle.

The Pittsburgh Oral-Facial Cleft study: expanding the cleft phenotype. Background and justification.

The Pittsburgh Oral-Facial Cleft study was begun in 1993 with the primary goal of identifying genes involved in nonsyndromic orofacial clefts in a variety of populations worldwide. Based on the results from a number of pilot studies and preliminary genetic analyses, a new research focus was added to the Pittsburgh Oral-Facial Cleft study in 1999: to elucidate the role that associated phenotypic features play in the familial transmission patterns of orofacial clefts in order to expand the definition of the nonsyndromic cleft phenotype. The purpose of this paper is to provide a comprehensive review of phenotypic features associated with nonsyndromic orofacial clefts. These features include fluctuating and directional asymmetry, non-right-handedness, dermatoglyphic patterns, craniofacial morphology, orbicularis oris muscle defects, dental anomalies, structural brain and vertebral anomalies, minor physical anomalies, and velopharyngeal incompetence.