Body size and shape in 46,XY females with complete testicular feminization.

Twenty-five anthropometric measurements were recorded from eight adult 46,XY females with complete testicular feminization and they were compared with those of female relatives of the patients and control females. In most dimensions 46,XY females were larger than normal females, the difference being close to one SD unit. The mean height of 46,XY females was 171.5 cm. The body proportions of 46,XY females were similar to those of normal females though, according to the results of analysis of covariance where the effect of size was controlled, there may be a tendency to slimmer body. The present findings suggest the presence of genes on the Y chromosome with a general size-increasing effect. They also indicate that the Y chromosome has an influence on the quantitative sex difference in body size. These conclusions are in accordance with the results of earlier studies which have indicated Y-chromosomal influence on stature and tooth size.

The phenotype of 45,X females: an anthropometric quantification.

Twenty-five anthropometric measurements were recorded from 48 adult 45,X females, 24 of their first-degree female relatives, and 95 control females. When 45,X females were compared with their female relatives and control females they were smaller in most dimensions, the largest differences being found in weight, stature, sitting height, arm length, leg length, bi-iliac diameter, bitrochanteric breadth and wrist width. No significant differences were found in head dimensions. The comparison after allowance for size showed that 45,X females are relatively smaller in stature, sitting height, arm length, leg length and bitrochanteric breadth and larger in bideltoid breadth, waist breadth, upper arm circumference, chest circumference and triceps skinfold. However, in proportion to height the relative lengths of sitting height, arm length and leg length were similar to those of normal females. The mother-45,X daughter correlation coefficients were significantly larger than those of sister-45,X sister pairs in body dimensions whereas they were more similar in head dimensions. The present findings suggest the presence of genes on the X chromosome having effect on growth in general. This conclusion is in accordance with the results of several earlier studies which have indicated an X-chromosomal influence on stature, tooth size and enamel thickness.

Factor analysis of craniofacial morphology in complete bilateral cleft lip and palate.

The lateral roentgencephalograms of 29 children with repaired complete bilateral clefts of the lip and palate (BCLP) were compared with those of an equal number of non-cleft children matched for age (+/- 0.9 yr.) and sex. Of 21 spatial, angular, and linear measurements used to evaluate craniofacial skeletal morphology, 11 showed significant differences between the groups. Using factor analysis, covariation between variables was reduced to a set of six factors: I cranial base; II mandible; III palate; IV lower face; V nasomaxillary-pharyngeal complex; VI clivus. The six-factor solution accounts for 91.7 percent of the variance. Factors II, III, and V provide the best discrimination between BCLP and noncleft individuals.

The position of the external ear in Turner's syndrome.

The cephalometric roentgenograms of persons with the syndrome of XO gonadal dysgenesis and its variants, and of those with Noonan's syndrome, were compared with a control sample of unaffected females matched for age. Posterior craniofacial relationships differ between XO and normal individuals, particularly in the region of the external auditory meatus, which is located relatively more inferiorly and anteriorly in XO gonadal dysgenesis subjects than in chromosomally normal persons. Individuals who are mosaics, and those with Noonan's syndrome, do not differ from the unaffected population to the same extent. Although the position of the auricle often changes appreciably with growth when judged by clinical criteria alone, cephalometric analysis of relative ear position may still support the diagnosis of "low-set" ears.

Variability of the craniofacial skeleton. III. Radiographic cephalometry of juvenile Macaca mulatta.

The variability of the craniofacial skeleton of the juvenile Macaca mulatta was studied from lateral radiographic cephalograms of twenty-three animals, using a previously described method based on fourteen lines depicting certain anatomic features. The findings, when compared to corresponding human data, revealed that a number of angular relationships are similar in this monkey and in human childrena and adults. The same is true regarding the variability of individual lines. These similarities suggest that biologic similarities exist in the cranio-facial skeletal architecture in these species. Specifically, the findings in the Macaca mulatta were in agreement with previous findings in human children and adults as regards the parallelism between the anterior parts of the neurovascular canals of the upper and lower jaws and the apparently adaptive role of the ramus and the condyle.