颅面复原技术在体质人类学中的应用

面貌是人类最重要的特征,其形态受到颅骨几何形态、面部软组织分布以及性别、年龄、身体质量指数、营养状况等多种因素的影响。考古遗址出土的古代人类遗骸,其面部软组织大多已经消失,如何根据颅面形态关系推测古人类颅骨的生前面貌已成为人类学家和考古学家关注的热点问题之一。传统手工颅面复原是由人类学家和艺术家使用雕塑技艺在颅骨上用可塑物质生成其生前面貌的技术。近年来,随着医学影像采集和计算机技术的发展,计算机颅面复原技术已经成为信息科学、体质人类学、法医人类学交叉研究的前沿技术之一。本文通过梳理和归纳相关文献的研究方法,对手工颅面复原技术、计算机颅面复原技术和颅面复原结果评价方法作简要综述,并对颅面复原技术在体质人类学中的应用进行了回顾和展望。     

A Genome-Wide Association Study Identifies Five Loci Influencing Facial Morphology in Europeans

Inter-individual variation in facial shape is one of the most noticeable phenotypes in humans, and it is clearly under genetic regulation; however, almost nothing is known about the genetic basis of normal human facial morphology. We therefore conducted a genome-wide association study for facial shape phenotypes in multiple discovery and replication cohorts, considering almost ten thousand individuals of European descent from several countries. Phenotyping of facial shape features was based on landmark data obtained from three-dimensional head magnetic resonance images (MRIs) and two-dimensional portrait images. We identified five independent genetic loci associated with different facial phenotypes, suggesting the involvement of five candidate genes—PRDM16, PAX3, TP63, C5orf50, and COL17A1—in the determination of the human face. Three of them have been implicated previously in vertebrate craniofacial development and disease, and the remaining two genes potentially represent novel players in the molecular networks governing facial development. Our finding at PAX3 influencing the position of the nasion replicates a recent GWAS of facial features. In addition to the reported GWA findings, we established links between common DNA variants previously associated with NSCL/P at 2p21, 8q24, 13q31, and 17q22 and normal facial-shape variations based on a candidate gene approach. Overall our study implies that DNA variants in genes essential for craniofacial development contribute with relatively small effect size to the spectrum of normal variation in human facial morphology. This observation has important consequences for future studies aiming to identify more genes involved in the human facial morphology, as well as for potential applications of DNA prediction of facial shape such as in future forensic applications.     

Automated analysis of craniofacial morphology using magnetic resonance images

Quantitative analysis of craniofacial morphology is of interest to scholars working in a wide variety of disciplines, such as anthropology, developmental biology, and medicine. T1-weighted (anatomical) magnetic resonance images (MRI) provide excellent contrast between soft tissues. Given its three-dimensional nature, MRI represents an ideal imaging modality for the analysis of craniofacial structure in living individuals. Here we describe how T1-weighted MR images, acquired to examine brain anatomy, can also be used to analyze facial features. Using a sample of typically developing adolescents from the Saguenay Youth Study (N = 597; 292 male, 305 female, ages: 12 to 18 years), we quantified inter-individual variations in craniofacial structure in two ways. First, we adapted existing nonlinear registration-based morphological techniques to generate iteratively a group-wise population average of craniofacial features. The nonlinear transformations were used to map the craniofacial structure of each individual to the population average. Using voxel-wise measures of expansion and contraction, we then examined the effects of sex and age on inter-individual variations in facial features. Second, we employed a landmark-based approach to quantify variations in face surfaces. This approach involves: (a) placing 56 landmarks (forehead, nose, lips, jaw-line, cheekbones, and eyes) on a surface representation of the MRI-based group average; (b) warping the landmarks to the individual faces using the inverse nonlinear transformation estimated for each person; and (3) using a principal components analysis (PCA) of the warped landmarks to identify facial features (i.e. clusters of landmarks) that vary in our sample in a correlated fashion. As with the voxel-wise analysis of the deformation fields, we examined the effects of sex and age on the PCA-derived spatial relationships between facial features. Both methods demonstrated significant sexual dimorphism in craniofacial structure in areas such as the chin, mandible, lips, and nose.     

Developmental response to cold stress in cranial morphology of Rattus: implications for the interpretation of climatic adaptation in fossil hominins

Adaptation to climate occupies a central position in biological anthropology. The demonstrable relationship between temperature and morphology in extant primates (including humans) forms the basis of the interpretation of the Pleistocene hominin Homo neanderthalensis as a cold-adapted species. There are contradictory signals, however, in the pattern of primate craniofacial changes associated with climatic conditions. To determine the direction and extent of craniofacial change associated with temperature, and to understand the proximate mechanisms underlying cold adaptations in vertebrates in general, dry crania from previous experiments on cold- and warm-reared rats were investigated using computed tomography scanning and three-dimensional digitization of cranial landmarks. Aspects of internal and external cranial morphology were compared using standard statistical and geometric morphometric techniques. The results suggest that the developmental response to cold stress produces subtle but significant changes in facial shape, and a relative decrease in the volume of the maxillary sinuses (and nasal cavity), both of which are independent of the size of the skull or postcranium. These changes are consistent with comparative studies of temperate climate primates, but contradict previous interpretations of cranial morphology of Pleistocene Hominini.     

A cephalometric study in Rubinstein-Taybi syndrome

A roentgencephalometric study to compare the facial morphology of 18 individuals affected with Rubinstein-Taybi syndrome and 25 of their parents was performed. The main findings in the affected individuals were shortening of facial height and depth, cranial base length, a marked decrease in size of the mandible, and a steep cranial base. A change with age was found for some dimensions. The pattern variability indices were high, indicating an abnormal craniofacial profile. The correlations between most patients were high, although this was less expressed for the younger patients. The parents had a normal pattern profile and pattern profile variability indices. The correlation between parents and their affected children was low. This study suggests that pattern profile analysis of cephalometric measurements may be a useful diagnostic tool in Rubinstein-Taybi syndrome. However, comparable studies of large groups of patients, especially of a younger age, are needed for further ascertainment of normal values in individuals with Rubinstein-Taybi syndrome at different stages of facial development.     

Craniofacial anthropometric analysis in Down's syndrome patients

Past investigations of Down's syndrome (DS) have indicated that there are marked abnormalities in the craniofacial morphology. The aim of this study was to establish the craniofacial anthropometric variables which discriminate DS group from healthy population and also to observe the changes occurring with growth. Using noninvasive method of craniofacial anthropometry, craniofacial pattern profile (CFPP) analysis (from twenty-five anthropometric measurements per person) was performed in 104 DS individuals and 365 healthy controls, aged seven to fifty-seven and divided into four age ranges. Z-scores were calculated for each variable and the variations in the craniofacial region have been identified by multivariate discriminative analysis. The results showed that three variables (head length (g-op), head circumference (OFC) and outer canthal distance (ex-ex) were responsible for 85.68% variability (p < 0.001). The analysis of z-scores showed that the majority of variables were in subnormal (under -2 SD) and normal range (from -2SD to +2SD), but none of them was in the supernormal range (over the +2SD). Some craniofacial characteristics are age-related. On the basis of craniofacial anthropometric traits it was possible to separate even 91.35% of DS patients from the healthy population. It could be concluded that these findings demonstrate the usefulness of application of CFPP in defining abnormal craniofacial dimensions in DS individuals.     

A developmental staging series for the African house snake, Boaedon (Lamprophis) fuliginosus

Embryonic staging series are important tools in the study of morphological evolution as they establish a common standard for future studies. In this study, we describe the in ovo embryological development of the African house snake (Boaedon fuliginosus), a non-venomous, egg-laying species within the superfamily Elapoidea. We develop our staging series based on external morphology of the embryo including the head, eye, facial prominences, pharyngeal slits, heart, scales, and endolymphatic ducts. An analysis of embryonic growth in length and mass is presented, as well as preliminary data on craniofacial skeletal development. Our results indicate that B. fuliginosus embryos are well into organogenesis but lack well-defined facial prominences at the time of oviposition. Mandibular and maxillary processes extend rostrally within 8 days (stage 3), corresponding to the first appearance of Meckel's cartilages. Overall, the development of the craniofacial skeleton in B. fuliginosus appears similar to that of other snake species with intramembraneous bones (e.g., dentary and compound bones) ossifying before most of the endochondral bones, the first of which to ossify are the quadrate and the otic capsule. Our staging series is the first to describe the post-ovipositional development of a non-venomous elapoid based on external morphology. This species is an extremely tractable captive that can produce large clutches of eggs every 45 days throughout the year. As such, B. fuliginosus should be a good model for evolutionary developmental biologists focusing on the craniofacial skeleton, loss of limbs, generational teeth, and venom delivery systems.     

Effect of craniofacial genotype on the relationship between morphology and feeding performance in cichlid fishes

The relationship between morphology and performance is complex, but important for understanding the adaptive nature of morphological variation. Recent studies have sought to better understand this system by illuminating the interconnectedness of different functional systems; however, the role of genetics is often overlooked. In this study, we attempt to gain insights into this relationship by examining the effect of genotypic variation at putative craniofacial loci on the relationship between morphology and feeding performance in cichlids. We studied two morphologically disparate species, as well as a morphologically intermediate hybrid population. We assessed feeding performance, jaw protrusion, and general facial morphology for each fish. We also genotyped hybrid animals at six previously identified craniofacial loci. Cichlid species were found to differ in facial geometry, kinematic morphology, and performance. Significant correlations were also noted between these variables; however, the explanatory power of facial geometry in predicting performance was relatively poor. Notably, when hybrids were grouped by genotype, the relationship between shape and performance improved. This relationship was especially robust in animals with the specialist allele at sox9b, a well‐characterized regulator of craniofacial development. These data suggest a novel role for genotype in influencing complex relationships between form and function.     

Morphological integration of soft-tissue facial morphology in Down Syndrome and siblings

Down syndrome (DS), resulting from trisomy of chromosome 21, is the most common live-born human aneuploidy. The phenotypic expression of trisomy 21 produces variable, though characteristic, facial morphology. Although certain facial features have been documented quantitatively and qualitatively as characteristic of DS (e.g., epicanthic folds, macroglossia, and hypertelorism), all of these traits occur in other craniofacial conditions with an underlying genetic cause. We hypothesize that the typical DS face is integrated differently than the face of non-DS siblings, and that the pattern of morphological integration unique to individuals with DS will yield information about underlying developmental associations between facial regions. We statistically compared morphological integration patterns of immature DS faces (N = 53) with those of non-DS siblings (N = 54), aged 6-12 years using 31 distances estimated from 3D coordinate data representing 17 anthropometric landmarks recorded on 3D digital photographic images. Facial features are affected differentially in DS, as evidenced by statistically significant differences in integration both within and between facial regions. Our results suggest a differential affect of trisomy on facial prominences during craniofacial development.     

Meaning of biodistance statistics: a test case using adult monozygotic twins

Anthropometry, historically one of the primary research techniques in physical anthropology, has been widely utilized in biodistance studies. The complex genetic and environmental interaction that governs the expression of anthropometric dimensions, together with concerns over measurement error, have sometimes clouded the interpretation of biodistances based upon anthropometry. In this study, 51 pairs of adult monozygotic twins were analysed using discriminant analysis and Mahalanobis' generalized distance. Both male and female twins, grouped by first- versus second-born, displayed very small, statistically insignificant distances between groups. When literature estimates of intra-observer measurement errors were used as a frame of reference, the average absolute differences between the twin pairs were approximately twice the size of the measurement error estimates. The results of this study suggest that, first, the environmental effect upon the genetically influenced traits measured by anthropometry is not large enough to bring about significant multivariate differences between identical twin pairs; and, second, biodistance studies based upon anthropometry can be reliable so long as measurement error is minimized.     

Craniofacial growth in subjects with unilateral complete cleft lip and palate, and unilateral incomplete cleft lip, from 2 to 22 months of age

This paper reports a longitudinal quantitative cephalometric analysis of the craniofacial growth in subjects with unilateral complete cleft lip and palate (UCCLP), and unilateral incomplete cleft lip (UICL), from 2 to 22 months of age. The purpose of the study was to determine the amount and direction of growth in UCCLP compared to UICL (control group) from 2 months of age (just prior to lip repair) to 22 months of age, 20 months later. The sample comprised of 49 subjects with UCCLP (37 males and 11 females) and 45 with UICL (29 males and 16 females). The cephalometric analysis of the craniofacial morphology included lateral, frontal, and axial projections. The data were presented as mean plots of the craniofacial region including the calvaria, cranial base, orbits, nasal bone, maxilla, mandible, cervical column, pharynx, and soft-tissue profile. A valid common coordinate system (registration according to the n-s line in the lateral projection, latero-orbitale line in the frontal projection, and meatus acusticus externus line in the axial projection for the landmark positions at examination 1 and 2) was ascertained. The growth at a specific anatomical location in a patient was defined as the displacement vector from the coordinate of the corresponding landmark in the X-ray at examination 1 to its coordinate at examination 2, corrected for X-ray magnification. The growth of an anatomical region in a patient was assessed by investigating the growth pattern formed by a collection of individual growth vectors in that region. The amount of growth in the UCCLP and UICL group was very similar. The general craniofacial growth pattern, in terms of the direction of growth, was also fairly similar in the UCCLP group and the control group. However, the maxilla and mandible showed a more vertical growth pattern than that observed in the control group. This study confirms that UCCLP is a localized deviation, and not a craniofacial anomaly, due to the fact that a normal growth potential has been observed in all craniofacial regions, except where the growth had been directly influenced by surgical intervention. Furthermore, the vertical growth pattern of the maxilla and mandible supports the hypothesis of a special facial type in cleft lip and palate individuals, and the facial type as a liability factor increasing the probability of cleft lip and palate.     

Assessment of precision and accuracy of digital surface photogrammetry with the DSP 400 system]

The objective of the present study was to evaluate the precision and accuracy of facial anthropometric measurements obtained through digital 3-D surface photogrammetry with the DSP 400 system in comparison to traditional 2-D photogrammetry. Fifty plaster casts of cleft infants were imaged and 21 standard anthropometric measurements were obtained. For precision assessment the measurements were performed twice in a subsample. Accuracy was determined by comparison of direct measurements and indirect 2-D and 3-D image measurements. Precision of digital surface photogrammetry was almost as good as direct anthropometry and clearly better than 2-D photogrammetry. Measurements derived from 3-D images showed better congruence to direct measurements than from 2-D photos. Digital surface photogrammetry with the DSP 400 system is sufficiently precise and accurate for craniofacial anthropometric examinations.     

A comparison of the craniofacial morphology in 2-month-old unoperated infants with unilateral complete cleft lip and palate, and unilateral incomplete cleft lip.

This paper reports a cephalometric analysis of the craniofacial morphology in infants with unoperated unilateral complete cleft lip and palate (UCCLP) and unoperated unilateral incomplete cleft lip (UICL). The purpose of the study was to determine the nature and extent of the craniofacial deviations in UCCLP as compared to the morphology in UICL, which has previously been shown to be close to normal. The samples comprised 82 infants with UCCLP (58 males and 24 females) and 75 with UICL (48 males and 27 females). The mean age was about 2 months in both groups. The cephalometric analysis of craniofacial morphology included the lateral, frontal, and axial projections. The data were presented as mean plots of the craniofacial region including the calvaria, cranial base, orbits, nasal bone, maxilla, mandible, cervical column, pharynx, and soft-tissue profile. The most pronounced deviations in the UCCLP group were observed in the maxillary complex and the mandible. The most striking findings were: markedly increased width of the maxilla, a short mandible, and bimaxillary retrognathia except for the premaxillary area, which was relatively protruding and asymmetric. The study did not support the hypothesis previously suggested in the literature that cleft lip and palate is a craniofacial anomaly as size and shape of the calvaria and cranial base were found to be normal. The etiology of cleft lip and palate is still incompletely understood. Based on the present study, we suggest that facial type may be a liability factor that could represent a developmental threshold increasing the probability of cleft lip and palate.     

Phenotypic evolution of human craniofacial morphology after admixture: a geometric morphometrics approach

An evolutionary, diachronic approach to the phenotypic craniofacial pattern arisen in a human population after high levels of admixture and gene flow was achieved by means of geometric morphometrics. Admixture has long been studied after molecular data. Nevertheless, few efforts have been made to explain the morphological outcome in human craniofacial samples. The Spanish-Amerindian contact can be considered a good scenario for such an analysis. Here we present a comparative analysis of craniofacial shape changes observed between two putative ancestor groups, Spanish and precontact Aztecs, and two diachronic admixed groups, corresponding to early and late colonial periods from the Mexico's Central Valley. Quantitative shape comparisons of Amerindian, Spanish, and admixed groups were used to test the expectations of quantitative genetics for admixture events. In its simplest form, this prediction states that an admixed group will present phenotypic values falling between those of both parental groups. Results show that, in general terms, although the human skull is a complex, integrated structure, the craniofacial morphology observed fits the theoretical expectations of quantitative genetics. Thus, it is predictive of population structure and history. In fact, results obtained after the craniofacial analysis are in accordance with previous molecular and historical interpretations, providing evidence that admixture is a main microevolutionary agent influencing modern Mexican gene pool. However, expectations are not straightforward when moderate shape changes are considered. Deviations detected at localized structures, such as the upper and lower face, highlight the evolution of a craniofacial pattern exclusively inherent to the admixed groups, indicating that quantitative characters might respond to admixture in a complicated, nondirectional way.     

Craniofacial pattern profile (CFPP) evaluation of facial dysmorphology in a familial syndrome with corneal anesthesia and multiple congenital anomalies

Roentgencephalometric findings are presented for a family with an unusual facial morphology. Twenty measurements defining the size and shape of major anatomic areas of the head and face were taken. The measurements were transformed into Z-scores. Using the sigma z (i.e., standard deviation of the Z-scores) value, an estimate of craniofacial pattern deviation from the norms was made for each family member. All members of this family have highly aberrant, i.e., dysmorphic, craniofacial pattern profiles. Familial as well as syndromic craniofacial similarities vs. dissimilarities between Z-score values of pairs of family members were assessed by the Pearson's correlation coefficient rz. Results of correlation coefficients demonstrate a high level (far in excess of the expected value of rz 0.50) of craniofacial pattern profile (CFPP) similarity between sibs and between sibs and their mother. This strongly suggests that the two sibs and their mothers are the carrier of the same genetic syndrome.     

A comparative study of adult facial morphology and its ontogeny in the fossil macaque Macaca majori from Capo Figari, Sardinia, Italy

This study examines the morphology of the face in the fossil macaque Macaca majori from Capo Figari (north-eastern Sardinia, Italy) in a comparative ontogenetic context. Thus, a fairly complete face from an adult representative of this fossil species is compared with 3 extant macaque species: Macaca sylvanus (of which species it is questioned whether it is a subspecies, M. sylvanus majori), Macaca mulatta and Macaca fascicularis. Additional incomplete subadult and adult specimens are also examined in order to compare their facial ontogeny with that of the same living species. The comparisons are based on facial landmark data and are undertaken using geometric morphometric methods. These studies indicate that the adult facial morphology and ontogeny of face size and shape in M. majori share much in common with extant macaque species. However, the adult M. majori face displays some unique morphological features, in particular with regard to lateral flaring and relative size of the zygomatic roots. From the study of a limited sample of fossils there is an indication that this flaring arises during postnatal growth, and in consequence the ontogeny of the face of this fossil species may be different from that of M. sylvanus and the other macaque species included in this analysis. From these studies, we conclude that M. majori shows differences in adult facial morphology and possibly in ontogeny from M. sylvanus compatible with a specific rather than subspecific distinction.     

Different cranial ontogeny in Europeans and Southern Africans

Modern human populations differ in developmental processes and in several phenotypic traits. However, the link between ontogenetic variation and human diversification has not been frequently addressed. Here, we analysed craniofacial ontogenies by means of geometric-morphometrics of Europeans and Southern Africans, according to dental and chronological ages. Results suggest that different adult cranial morphologies between Southern Africans and Europeans arise by a combination of processes that involve traits modified during the prenatal life and others that diverge during early postnatal ontogeny. Main craniofacial changes indicate that Europeans differ from Southern Africans by increasing facial developmental rates and extending the attainment of adult size and shape. Since other studies have suggested that native subsaharan populations attain adulthood earlier than Europeans, it is probable that facial ontogeny is linked with other developmental mechanisms that control the timing of maturation in other variables. Southern Africans appear as retaining young features in adulthood. Facial ontogeny in Europeans produces taller and narrower noses, which seems as an adaptation to colder environments. The lack of these morphological traits in Neanderthals, who lived in cold environments, seems a paradox, but it is probably the consequence of a warm-adapted faces together with precocious maturation. When modern Homo sapiens migrated into Asia and Europe, colder environments might establish pressures that constrained facial growth and development in order to depart from the warm-adapted morphology. Our results provide some answers about how cranial growth and development occur in two human populations and when developmental shifts take place providing a better adaptation to environmental constraints.     

Head posture and craniofacial morphology

The associations between craniofacial morphology and the posture of the head and the cervical column were examined in a sample of 120 Danish male students aged 22–30 years. Two head positions were recorded on lateral cephalometric radiographs, one determined by the subject's own feeling of a natural head balance (self balance position), and the other by the subject looking straight into a mirror (mirror position). Craniofacial morphology was described by 42 linear and angular variables, and postural relationships by 18 angular variables. A comprehensive set of correlations was found between craniofacial morphology and head posture. The correlations were similar for both head positions investigated. Of the postural variables, the position of the head in relation to the cervical column showed the largest set of correlations with craniofacial morphology. Extension of the head in relation to the cervical column was found in connection with large anterior and small posterior facial heights, small antero-posterior craniofacial dimensions, large inclination of the mandible to the anterior cranial base and to the nasal plane, facial retrognathism, a large cranial base angle, and a small nasopharyngeal space. The possible role of functional factors in mediating the relationship between morphology and posture was discussed.     

Anyone with a Long-Face? Craniofacial Evolutionary Allometry (CREA) in a Family of Short-Faced Mammals,the Felidae

Among adults of closely related species, a trend in craniofacial evolutionary allometry (CREA) for larger taxa to be long-faced and smaller ones to have paedomorphic aspects, such as proportionally smaller snouts and larger braincases, has been demonstrated in some mammals and two bird lineages. Nevertheless, whether this may represent a ‘rule’ with few exceptions is still an open question. In this context, Felidae is a particularly interesting family to study because, although its members are short-faced, previous research did suggest relative facial elongation in larger living representatives. Using geometric morphometrics, based on two sets of anatomical landmarks, and traditional morphometrics, for comparing relative lengths of the palate and basicranium, we performed a series of standard and comparative allometric regressions in the Felidae and its two subfamilies. All analyses consistently supported the CREA pattern, with only one minor exception in the geometric morphometric analysis of Pantherinae: the genus Neofelis. With its unusually long canines, Neofelis species seem to have a relatively narrow cranium and long face, despite being smaller than other big cats. In spite of this, overall, our findings strengthen the possibility that the CREA pattern might indeed be a ‘rule’ among mammals, raising questions on the processes behind it and suggesting future directions for its study.     

Genome-wide association study of three-dimensional facial morphology identifies a variant in PAX3 associated with nasion position

Craniofacial morphology is highly heritable, but little is known about which genetic variants influence normal facial variation in the general population. We aimed to identify genetic variants associated with normal facial variation in a population-based cohort of 15-year-olds from the Avon Longitudinal Study of Parents and Children. 3D high-resolution images were obtained with two laser scanners, these were merged and aligned, and 22 landmarks were identified and their x, y, and z coordinates used to generate 54 3D distances reflecting facial features. 14 principal components (PCs) were also generated from the landmark locations. We carried out genome-wide association analyses of these distances and PCs in 2,185 adolescents and attempted to replicate any significant associations in a further 1,622 participants. In the discovery analysis no associations were observed with the PCs, but we identified four associations with the distances, and one of these, the association between rs7559271 in PAX3 and the nasion to midendocanthion distance (n-men), was replicated (p = 4 × 10(-7)). In a combined analysis, each G allele of rs7559271 was associated with an increase in n-men distance of 0.39 mm (p = 4 × 10(-16)), explaining 1.3% of the variance. Independent associations were observed in both the z (nasion prominence) and y (nasion height) dimensions (p = 9 × 10(-9) and p = 9 × 10(-10), respectively), suggesting that the locus primarily influences growth in the yz plane. Rare variants in PAX3 are known to cause Waardenburg syndrome, which involves deafness, pigmentary abnormalities, and facial characteristics including a broad nasal bridge. Our findings show that common variants within this gene also influence normal craniofacial development.