Robustness of Distinctive Facial Features in Prader-Willi Syndrome: A Stereophotogrammetric Analysis and Association with Clinical and Biochemical Markers in Adult Individuals.

BACKGROUND: Prader-Willi syndrome (PWS) is a rare genomic imprinting disorder associated to a complex neurodevelopmental phenotype and a distinctive facial appearance. The study investigated the relationships between the quantitative facial dysmorphism in PWS and clinical and biochemical markers of the disease and its treatment. METHODS: Facial images of 15 Caucasian adult individuals with PWS (8 males, 42 ± 5 years; 7 females, 37 ± 8 years; BMI 38.87 ± 8.92 kg/m2) were acquired through stereophotogrammetry. From the 3D coordinates of 38 landmarks, linear distances and angles were calculated; they were expressed as z-score values by referring to 403 healthy subjects matched for age and sex and compared by Student's t-test with Bonferroni correction for multiple testing. Patients underwent auxological and biochemical assessment of endocrine/metabolic dysfunction and nocturnal respiratory function. An exploratory correlation analysis was performed to investigate their associations with the facial phenotype; uncorrected p-values were used. RESULTS AND CONCLUSIONS: Individuals with PWS showed decreased bifrontal diameter, facial depths, palpebral fissures, mandibular ramus length, lower vermillion height, and modified relative position of exocanthia and nasion. Since these characteristics did not show any associations with clinical and biochemical markers of PWS, they could constitute robust distinctive facial features and contribute to the diagnosis of the disorder. Individuals with PWS showed also a larger mandibular width with smaller gonial angles, thinner upper vermillion, greater inclination of the orbit relative to the Frankfurt plane, and a smaller angle of the auricles versus the facial midplane. Relationships between these facial anthropometric features and body composition, glucidic metabolism indexes, nocturnal hypoxemia episodes, or duration of GH treatment were found, suggesting their potentially useful role in the clinical monitoring and management of the disease. However, they need to be confirmed by subsequent dedicated studies.

A Longitudinal 3D Investigation on Facial Similarity among Two Monozygotic Twins in Their First Childhood: An Application of the 3D-3D Facial Superimposition Technique.

Children affected by orofacial disorders mix functional alterations with morphological problems, and suitable techniques should be devised for their analysis. Stereophotogrammetry and 3D-3D facial superimposition have already proven to reliably assess morphological differences even between twin siblings, separating the effect of genetic and environmental factors. However, little information is available about twin babies. We longitudinally analyzed a couple of healthy monozygotic twin sisters aged 6 months to 5 years (height time points). The entire 3D facial models of the two sisters were registered according to the least point-to-point distance, and the relevant RMS (root mean square) distance between the facial models was calculated at each time and compared with reference data recorded from adult twins (Mann-Whitney test, p < 0.05). RMS values in the twin sisters were on average 1.18 ± 0.21 mm, and 1.86 ± 0.53 mm in adults, with a significant difference (p < 0.01). Results showed that twins are more similar in early childhood when environmental factors are supposed to have not influenced facial morphology sufficiently. Additionally, the technique seems adequate to detect even small differences: the faces of the twin sisters were not fully identical. 3D-3D facial superimposition techniques can objectively quantify facial dissimilarity even in monozygotic twins. The method may be applied to the faces of twins discordant for some orofacial and maxillofacial pathology and potentially separate genetic and environmental factors.

Age- and Sex-Related Changes in Labial Dimensions of Sudanese Youngs of Arab Descent: A Three-Dimensional Cross-Sectional Study.

Proper evaluation of facial features during growth and development requires the knowledge of anthropometric reference values validated for ethnicity, sex and age. In order to provide information concerning the normal sex-related size of the lips during childhood and young adulthood in Sudanese people of Arab descent, the three-dimensional coordinates of nine labial soft tissue landmarks were obtained by a laser scanner in 332 male and 386 female healthy Northern Sudanese subjects aged 3-30 years. Six labial linear distances, the vermilion height to mouth width ratio, vermilion areas and lip volumes were calculated and averaged for age and sex. Comparisons were performed by factorial analysis of variance (p < 0.01). All labial dimensions significantly increased with age. Significant effects of sex were found for four measurements only, with very small effect size; nonetheless, lips and their parts grew faster in females than in males at almost all ages. Philtrum width was the first linear distance that attained adult values. The vermilion height to mouth width ratio was nearly constant across the age groups. Data collected in this study contribute to information about ethnic-specific lip morphology during growth and development. As orolabial features change over time with their own pattern, the relevant age-related trends should be properly considered for clinical treatment planning.

The face in marfan syndrome: A 3D quantitative approach for a better definition of dysmorphic features.

Marfan syndrome (MFS) is a rare hereditable disorder of connective tissue caused by mutations in the fibrillin-1 gene FBN1. Timely diagnosis of MFS is essential to prevent life-threatening cardiovascular complications; nevertheless it can be difficult owing to the phenotypic variability of the syndrome. No clear quantitative definition of facial abnormalities associated with MFS is available. The aim of this study was to improve the definition of the facial phenotype associated with MFS and to verify the usefulness of a 3D noninvasive quantitative approach for its early recognition. 3D facial images of 61 Italian subjects with MFS, aged 16-64 years (21 males, 38 ± 15 years; 40 females, 41 ± 13 years) were obtained by stereophotogrammetry. From the coordinates of 17 soft-tissue facial landmarks, linear distances and angles were computed; z score values were calculated to compare patients with healthy reference subjects (400 males, 379 females) matched for sex and age. Student's t test was used for statistical comparisons. All subjects with MFS showed greater facial divergence (P < 0.001; mean z score +1.9) and a lower facial height index (P < 0.001; mean z score -1.9) than reference subjects, both values being influenced by a shorter mandibular ramus (P < 0.001; mean z score -1.9) and a mild but significant increase in facial height (P < 0.001; mean z score +1.2). Palpebral down-slanting was found in 85% of MFS subjects. There were no sex differences. Quantitative abnormalities identified in this study enrich information about the facial dysmorphism in MFS and confirm its usefulness for early recognition of the disease. Clin. Anat. 31:380-386, 2018. © 2017 Wiley Periodicals, Inc.

Personal Identification of Deceased Persons: An Overview of the Current Methods Based on Physical Appearance.

The use of the physical appearance of the deceased has become more important because the available antemortem information for comparisons may consist only of a physical description and photographs. Twenty-one articles dealing with the identification based on the physiognomic features of the human body were selected for review and were divided into four sections: (i) visual recognition, (ii) specific facial/body areas, (iii) biometrics, and (iv) dental superimposition. While opinions about the reliability of the visual recognition differ, the search showed that it has been used in mass disasters, even without testing its objectivity and reliability. Specific facial areas being explored for the identification of dead; however, their practical use is questioned, similarly to soft biometrics. The emerging dental superimposition seems to be the only standardized and successfully applied method for identification so far. More research is needed into a potential use of the individualizing features, considering that postmortem changes and technical difficulties may affect the identification.

Recognition of children on age-different images: Facial morphology and age-stable features.

The situation of missing children is one of the most emotional social issues worldwide. The search for and identification of missing children is often hampered, among others, by the fact that the facial morphology of long-term missing children changes as they grow. Nowadays, the wide coverage by surveillance systems potentially provides image material for comparisons with images of missing children that may facilitate identification. The aim of study was to identify whether facial features are stable in time and can be utilized for facial recognition by comparing facial images of children at different ages as well as to test the possible use of moles in recognition. The study was divided into two phases (1) morphological classification of facial features using an Anthropological Atlas; (2) algorithm developed in MATLAB® R2014b for assessing the use of moles as age-stable features. The assessment of facial features by Anthropological Atlases showed high mismatch percentages among observers. On average, the mismatch percentages were lower for features describing shape than for those describing size. The nose tip cleft and the chin dimple showed the best agreement between observers regarding both categorization and stability over time. Using the position of moles as a reference point for recognition of the same person on age-different images seems to be a useful method in terms of objectivity and it can be concluded that moles represent age-stable facial features that may be considered for preliminary recognition.

The Reliability of Facial Recognition of Deceased Persons on Photographs.

In humanitarian emergencies, such as the current deceased migrants in the Mediterranean, antemortem documentation needed for identification may be limited. The use of visual identification has been previously reported in cases of mass disasters such as Thai tsunami. This pilot study explores the ability of observers to match unfamiliar faces of living and dead persons and whether facial morphology can be used for identification. A questionnaire was given to 41 students and five professionals in the field of forensic identification with the task to choose whether a facial photograph corresponds to one of the five photographs in a lineup and to identify the most useful features used for recognition. Although the overall recognition score did not significantly differ between professionals and students, the median scores of 78.1% and 80.0%, respectively, were too low to consider this method as a reliable identification method and thus needs to be supported by other means.

Age-related and sex-related changes in the normal soft tissue profile of native Northern Sudanese subjects: a cross-sectional study.

Information about age-related and sex-related normative measurements of the nasolabial region in native Northern Sudanese subjects is scanty. We have therefore used a hand-held laser scanner to measure nasolabial angles and distances, and collected the 3-dimensional coordinates of seven landmarks on the facial soft tissues from 654 healthy native Northern Sudanese subjects (327 male and 327 female, aged 4-30 years). From these we calculated five angles and two linear distances and took the mean (SD) for age and sex, and compared them using factorial analysis of variance. All measurements analysed were significantly modified by age in both sexes (p < 0.01) except for the distance from the lower lip to Ricketts' E-line. Sex had a significant effect on the mentolabial and maxillary prominence angles and both distances (p < 0.005). Nasal convexity and the interlabial angle became more obtuse with growth, while the nasolabial and mentolabial angles reduced progressively with female subjects having significantly more obtuse mentolabial angles (p < 0.001). The maxillary prominence angle progressively decreased during childhood, and increased after adolescence, with larger values in male subjects. The upper and lower lip distances from Ricketts' E-line were also significantly larger in male subjects (p < 0.003), but the difference reduced with age. Overall, there were several differences when we compared our data with published data for African and white subjects, which points to the need for ethnic-specific data. Measurements collected in the current study could be used for the quantitative description of facial morphology in native Northern Sudanese children, adolescents, and young adults.

Abnormal Variations in the Facial Soft Tissues of Individuals With Down Syndrome: Sudan Versus Italy.

OBJECTIVE: To provide quantitative information about the facial soft tissue of Italian and Northern Sudanese subjects with Down syndrome by using summary anthropometric measurements. DESIGN, SETTING, AND PATIENTS: The three-dimensional coordinates of soft tissue facial landmarks were obtained using a computerized digitizer in 54 Italian subjects with Down syndrome (20 females and 34 males, 13 to 52 years), in 64 Northern Sudanese subjects with Down syndrome (18 females and 46 males, 5 to 34 years), and in 578 Italian and 653 Northern Sudanese reference subjects, matched for sex and age. From the landmarks, 16 facial dimensions were calculated. Data from subjects with Down syndrome were compared with those collected from control individuals by computing z scores. Two summary anthropometric measurements for quantifying craniofacial variations were obtained: the mean z score (an index of overall facial size) and its standard deviation, the craniofacial variability index (an index of facial harmony). RESULTS: In subjects with Down syndrome, facial size was significantly smaller and craniofacial variability was significantly greater than in typically developed individuals; 93% of Italian and 81% of Northern Sudanese subjects with Down syndrome had one or both values outside the normal interval. Overall, Italian subjects with Down syndrome differed more from the norm than did those from Northern Sudan. In the Northern Sudanese subjects, the mean z scores and the craniofacial variability index were significantly influenced by age: Older Northern Sudanese subjects with Down syndrome had smaller mean z scores and craniofacial variability index values than younger subjects. CONCLUSIONS: The two ethnic groups had different alterations in their soft tissue facial dimensions that were partially influenced by age.