Basicranial Flexion Research Articles

Unveiling the vulnerability of the human abducens nerve: insights from comparative cranial base anatomy in mammals and primates.

The topographic anatomy of the abducens nerve has been the subject of research for more than 150 years. Although its vulnerability was initially attributed to its length, this hypothesis has largely lost prominence. Instead, attention has shifted toward its intricate anatomical relations along the cranial base. Contrary to the extensive anatomical and neurosurgical literature on abducens nerve anatomy in humans, its complex anatomy in other species has received less emphasis. The main question addressed here is why the human abducens nerve is predisposed to injury. Specifically, we aim to perform a comparative analysis of the basicranial pathway of the abducens nerve in mammals and primates. Our hypothesis links its vulnerability to cranial base flexion, particularly around the sphenooccipital synchondrosis. We examined the abducens nerve pathway in various mammals, including primates, humans (N = 40; 60% males; 40% females), and human fetuses (N = 5; 60% males; 40% females). The findings are presented at both the macroscopic and histological levels. To associate our findings with basicranial flexion, we measured the cranial base angles in the species included in this study and compared them to data in the available literature. Our findings show that the primitive state of the abducens nerve pathway follows a nearly flat (unflexed) cranial base from the pontomedullary sulcus to the superior orbital fissure. Only the gulfar segment, where the nerve passes through Dorello's canal, demonstrates some degree of variation. We present evidence indicating that the derived state of the abducens pathway, which is most pronounced in humans from an early stage of development, is characterized by following the significantly more flexed basicranium. Overall, the present study elucidates the evolutionary basis for the vulnerability of the abducens nerve, especially within its gulfar and cavernous segments, which are situated at the main synchondroses between the anterior, middle, and posterior cranial fossae-a unique anatomical relation exclusive to the abducens nerve. The principal differences between the pathways of this nerve and those of other cranial nerves are discussed. The findings suggest that the highly flexed human cranial base plays a pivotal role in the intricate anatomical relations and resulting vulnerability of the abducens nerve.

The nasopharynx as a window to half a billion years of evolutionary change to the upper respiratory tract.

The nasopharynx is a region at the nexus of several vital physiological systems, including the nasal cavity, oral cavity, braincase, middle ear, and cervical vertebrae. It has undergone pronounced morphological change over the course of tetrapod, mammalian, and human evolution. However, despite its place in evolutionary history, the nasopharynx has received relatively little attention. This special issue focuses on "the evolution, development, and functional morphology of the nasopharynx and its boundaries." Topics covered here include evolutionary developmental biology (or evo-devo), nasopharyngeal adaptions in bats, the importance of the nasopharynx and adjacent structures over the course of human evolution, normal development, middle ear morphology, clinical importance, and the study of the nasopharynx throughout history. Contributions to this special issue range among reviews and syntheses, descriptive analyses, phylogenetic analysis, traditional morphometrics, three-dimensional geometric morphometrics, and computational fluid dynamics. Here, we discuss the central importance of the nasopharynx as can be seen through vertebrate paleontology and comparative morphology. It is via the composite evolutionary history of the nasopharyngeal boundaries that our origins may be better understood, starting with the derivation of the choanae from the median olfactory pit of jawless fish nearly half a billion years ago to the basicranial flexion and facial reduction that distinguish Homo sapiens from all other living mammals. Indeed, the nasopharynx must be acknowledged for its importance in the processes of encephalization and acquisition of speech that have become the hallmark of our species.

Craniofacial Evolution: From Australopithecus to Modern Man.

Through the analysis and evaluation of the size and morphology of teeth and jaws, it is possible to differentiate animal species including man, allowing the theory of human evolution to be established. Hominin evolution is characterized by two main features, the transition to bipedality and the increase in brain size. This had an important impact on the structure and function of the hominine skull. The aim of this article is to retrace the evolutionary steps that led to Homo Sapiens, the direct ancestor of modern man. For the following paper, scientific articles from Medline (PubMed) and Google Scholar database were used from 1929 to 2018. Hominid evolution is characterized by 2 main features, the transition to bipedality and the increase in brain size. The fossils found show that both trends have had an important impact on the morphology and function of the skull of modern man. The basicranial flexion and growth have led to the facial modifications typical of modern man. The main changes concern the mandibular evolution with the appearance of the chin, the formation of the Spee curve due to mandibular arch growth, the formation of the temporomandibular joint as a hinge joint with a sliding socket as the condyle and a better function and maximum efficiency than its predecessors thanks to respect for the divine proportions of the face. Knowledge of ontogenesis allows us to know the factors underlying human form and function, analyze and evaluate them in the clinical context.

Ontogenetic and in silico models of spatial-packing in the hypermuscular mouse skull.

Networks linking single genes to multiple phenotypic outcomes can be founded on local anatomical interactions as well as on systemic factors like biochemical products. Here we explore the effects of such interactions by investigating the competing spatial demands of brain and masticatory muscle growth within the hypermuscular myostatin-deficient mouse model and in computational simulations. Mice that lacked both copies of the myostatin gene (-/-) and display gross hypermuscularity, and control mice that had both copies of the myostatin gene (+/+) were sampled at 1, 7, 14 and 28 postnatal days. A total of 48 mice were imaged with standard as well as contrast-enhanced microCT. Size metrics and landmark configurations were collected from the image data and were analysed alongside in silico models of tissue expansion. Findings revealed that: masseter muscle volume was smaller in -/- mice at day 1 but became, and remained thereafter, larger by 7days; -/- endocranial volumes begin and remained smaller; -/- enlargement of the masticatory muscles was associated with caudolateral displacement of the calvarium, lateral displacement of the zygomatic arches, and slight dorsal deflection of the face and basicranium. Simulations revealed basicranial retroflexion (flattening) and dorsal deflection of the face associated with muscle expansion and abrogative covariations of basicranial flexion and ventral facial deflection associated with endocranial expansion. Our findings support the spatial-packing theory and highlight the importance of understanding the harmony of competing spatial demands that can shape and maintain mammalian skull architecture during ontogeny.

The evolution of hominoid cranial diversity: A quantitative genetic approach.

Hominoid cranial evolution is characterized by substantial phenotypic diversity, yet the cause of this variability has rarely been explored. Quantitative genetic techniques for investigating evolutionary processes underlying morphological divergence are dependent on the availability of good ancestral models, a problem in hominoids where the fossil record is fragmentary and poorly understood. Here, we use a maximum likelihood approach based on a Brownian motion model of evolutionary change to estimate nested hypothetical ancestral forms from 15 extant hominoid taxa. These ancestors were then used to calculate rates of evolution along each branch of a phylogenetic tree using Lande's generalized genetic distance. Our results show that hominoid cranial evolution is characterized by strong stabilizing selection. Only two instances of directional selection were detected; the divergence ofHomofrom its last common ancestor withPan, and the divergence of the lesser apes from their last common ancestor with the great apes. In these two cases, selection gradients reconstructed to identify the specific traits undergoing selection indicated that selection on basicranial flexion, cranial vault expansion, and facial retraction characterizes the divergence ofHomo, whereas the divergence of the lesser apes was defined by selection on neurocranial size reduction.

Implications of the Relationship Between Basicranial Flexion and Facial Orientation for the Evolution of Hominid Craniofacial Structures

The basicranium and face have been linked through genetic, developmental, and functional relationships throughout their evolution. As a result, basicranial morphology most likely plays a major role in the evolution of facial structures. We describe the relationships between basicranial flexion and the face in Homo, Pan, and Gorilla to determine the role of cranial base angle reduction in the setup of the short and orthognathic face of Homo. We test the hypotheses that cranial base flexion plays a significant part in variation in facial orientation, length, and projection at the intraspecific level. The sample comprised 125 crania of adult specimens including 66 Homo sapiens, 32 Pan troglodytes, and 27 Gorilla gorilla. We described the cranial base and face using landmarks placed on scans of the surfaces and computed correlations between the cranial base angle and facial orientation, length, and projection. Our results support the hypotheses that cranial base flexion plays a significant part in facial orientation for Homo and Pan and in facial length for Pan. The hypothesis that basicranial flexion is related to a reduction of facial projection is not supported. The findings suggest that basicranial flexion can explain several anatomical specificities of hominins, including the reduction of prognathism and the reduction of the length of the nasopharynx. We found different patterns in the different genera, highlighting the fact that changes in the relationship between craniofacial structures may have occurred during hominid evolution.

Encephalization and diversification of the cranial base in platyrrhine primates

The cranial base, composed of the midline and lateral basicranium, is a structurally important region of the skull associated with several key traits, which has been extensively studied in anthropology and primatology. In particular, most studies have focused on the association between midline cranial base flexion and relative brain size, or encephalization. However, variation in lateral basicranial morphology has been studied less thoroughly. Platyrrhines are a group of primates that experienced a major evolutionary radiation accompanied by extensive morphological diversification in Central and South America over a large temporal scale. Previous studies have also suggested that they underwent several evolutionarily independent processes of encephalization. Given these characteristics, platyrrhines present an excellent opportunity to study, on a large phylogenetic scale, the morphological correlates of primate diversification in brain size. In this study we explore the pattern of variation in basicranial morphology and its relationship with phylogenetic branching and with encephalization in platyrrhines. We quantify variation in the 3D shape of the midline and lateral basicranium and endocranial volumes in a large sample of platyrrhine species, employing high-resolution CT-scans and geometric morphometric techniques. We investigate the relationship between basicranial shape and encephalization using phylogenetic regression methods and calculate a measure of phylogenetic signal in the datasets. The results showed that phylogenetic structure is the most important dimension for understanding platyrrhine cranial base diversification; only Aotus species do not show concordance with our molecular phylogeny. Encephalization was only correlated with midline basicranial flexion, and species that exhibit convergence in their relative brain size do not display convergence in lateral basicranial shape. The evolution of basicranial variation in primates is probably more complex than previously believed, and understanding it will require further studies exploring the complex interactions between encephalization, brain shape, cranial base morphology, and ecological dimensions acting along the species divergence process.

Identification of the posterior deep temporal nerve groove and canal, and its relationship to basicranial angle

The posterior deep temporal nerve (PDTN) groove accommodates the posterior deep temporal nerve and is infrequently described. This area is important for some clinical procedures including mandibular nerve blockade. This study assesses the prevalence and morphological variations of the PDTN groove in a single population, investigating its relationship with basicranial angle to assess predictive value for the existence of this feature. The infratemporal regions of 101 contemporary Sinhalese Sri Lankan skulls were examined bilaterally and ordinally scored for PDTN groove morphology (six point scale); 11 random skulls were radiographed and basicranial angles measured. Descriptive statistics and significance testing (P < 0.05) were used for analysis, including symmetry (Wilcoxon matched-pairs signed rank test), sex differences (Mann and Whitney U test), and between basicranial angle and PDTN morphology (Pearson's product-moment correlation coefficient). Ninety skulls (44 males) were included for analysis (180 sides). PDTN groove morphology on individual sides ranged from non-existent (20.6%) to partial (5.6%) and complete canals (1.1%); 93.3% of skulls had a PDTN groove or canal. Skulls exhibited bilateral symmetry (P = 0.12) and males had significantly deeper PDTN grooves or canals (P = 0.018). Basicranial flexion correlated strongly with PDTN groove or canal prevalence (P = 0.0028). Sri Lankan skulls have a high prevalence of PDTN grooves and also canals, a feature not previously described. Prevalence was related significantly to sex but not symmetry, and PDTN grooves and canals correlated significantly with basicranial angle. Knowledge of this morphology is important for some clinical procedures, anthropological assessment, and as a location for PDTN entrapment.

Modeling the epigenetic influence of climate on upper respiratory tract proportions with two groups of Macaca mulatta (918.12)

Many studies have focused on population differences in upper respiratory tract (URT) morphology and evolutionary adaptation to climate. However, epigenetic influence of local climate on cranial development has not received much attention. This study used two samples of adult male Macaca mulatta raised in outdoor colonies in California (n=7; CA, a warmer climate) and Oregon (n=8; OR, a colder climate). Postmortem whole heads underwent CT and three‐dimensional landmark coordinate data were collected from axial slices for Generalized Procrustes Analysis. This showed a measurement artifact constrained to Principal Component 1 (PC1; roughly 60% of shape variance) with much overlap between CA and OR groups in PC2 (10.4%). However, they tended to separate on PC 3 (7.38%), on which OR specimens exhibited longer nasal roofs, taller and narrower choanae, narrower piriform apertures, increased length and angulation of the cartilaginous Eustachian tube, shorter basicrania, and less external basicranial flexion and facial kyphosis. Centroid size was larger (p&lt;0.0009) among the OR sample but body weight was higher among the CA group (p&lt;0.024), suggesting a larger URT relative to body size in the colder habitat. Results indicate that local climate may exert subtle epigenetic influence on URT morphology, warranting further study.Grant Funding Source: National Science Foundation

Facial Orientation and Facial Shape in Extant Great Apes: A Geometric Morphometric Analysis of Covariation

The organization of the bony face is complex, its morphology being influenced in part by the rest of the cranium. Characterizing the facial morphological variation and craniofacial covariation patterns in extant hominids is fundamental to the understanding of their evolutionary history. Numerous studies on hominid facial shape have proposed hypotheses concerning the relationship between the anterior facial shape, facial block orientation and basicranial flexion. In this study we test these hypotheses in a sample of adult specimens belonging to three extant hominid genera (Homo, Pan and Gorilla). Intraspecific variation and covariation patterns are analyzed using geometric morphometric methods and multivariate statistics, such as partial least squared on three-dimensional landmarks coordinates. Our results indicate significant intraspecific covariation between facial shape, facial block orientation and basicranial flexion. Hominids share similar characteristics in the relationship between anterior facial shape and facial block orientation. Modern humans exhibit a specific pattern in the covariation between anterior facial shape and basicranial flexion. This peculiar feature underscores the role of modern humans' highly-flexed basicranium in the overall integration of the cranium. Furthermore, our results are consistent with the hypothesis of a relationship between the reduction of the value of the cranial base angle and a downward rotation of the facial block in modern humans, and to a lesser extent in chimpanzees.

Endoscopic investigation of the palatopharyngeal muscular anatomy of the great apes: Anatomic models for the study of obstructive sleep apnea etiology

Laryngeal descent and external basicranial flexion create an upper respiratory tract ideal for spoken language, but predispose humans to obstructive sleep apnea (OSA). OSA may be related to soft palate flaccidity and length, as well as a failure of its paramedian resorption, causing airway collapse. To this end, non‐human hominoids (great apes) were used as anatomic models for a structural configuration divergent from humans. There exist no documented cases of OSA among great apes, likely a result of their upper respiratory tract anatomy. Endoscopic examination was performed on a sample of adult Pan troglodytes (n=1), Pongo pygmaeus (n=1), Gorilla gorilla (n=1), neonate Gorilla gorilla (n=1) and Hylobates sp. (n=1) from La Palmyre Zoo in Les Mathes, France. Great apes exhibited marked soft palate length, which expanded posteriorly in a nearly horizontal orientation—as opposed to the comparatively vertical orientation of humans—to cover a relatively deep nasopharynx. Uvular projection from the palatopharyngeal arch was short compared to humans. The neonates, however, displayed more shallow nasopharynges and vertical soft palate and palatopharyngeal arch orientations, similar to humans. Future studies should investigate whether OSA related to airway constriction at the fauces is prevented in great apes by a greater nasopharyngeal depth and reduced palatopharyngeal and surrounding soft tissue flaccidity.Grant Funding Source : alumni association

Effects of brain and facial size on basicranial form in human and primate evolution

Understanding variation in the basicranium is of central importance to paleoanthropology because of its fundamental structural role in skull development and evolution. Among primates, encephalisation is well known to be associated with flexion between midline basicranial elements, although it has been proposed that the size or shape of the face influences basicranial flexion. In particular, brain size and facial size are hypothesized to act as antagonists on basicranial flexion. One important and unresolved problem in hominin skull evolution is that large-brained Neanderthals and some Mid-Pleistocene humans have slightly less flexed basicrania than equally large-brained modern humans. To determine whether or not this is a consequence of differences in facial size, geometric morphometric methods were applied to a large comparative data set of non-human primates, hominin fossils, and humans (N = 142; 29 species). Multiple multivariate regression and thin plate spline analyses suggest that basicranial evolution is highly significantly influenced by both brain size and facial size. Increasing facial size rotates the basicranium away from the face and slightly increases the basicranial angle, whereas increasing brain size reduces the angles between the spheno-occipital clivus and the presphenoid plane, as well as between the latter and the cribriform plate. These interactions can explain why Neanderthals and some Mid-Pleistocene humans have less flexed cranial bases than modern humans, despite their relatively similar brain sizes. We highlight that, in addition to brain size (the prime factor implicated in basicranial evolution in Homo), facial size is an important influence on basicranial morphology and orientation. To better address the multifactorial nature of basicranial flexion, future studies should focus on the underlying factors influencing facial size evolution in hominins.

An interspecific analysis of relative jaw‐joint height in primates

Jaw-joint height (JJH) above the occlusal plane is thought to be influenced by cranial base angle (CBA) and facial angulation during growth. To better understand how JJH relates to midline craniofacial form, we test the hypothesis that relative increases in JJH are correlated with increasing CBA flexion and facial kyphosis (i.e., ventral bending) across primates. We compared JJH above the occlusal plane to CBA and the angle of facial kyphosis (AFK) across adults from 82 species. JJH scales with positive allometry relative to a skull geometric mean in anthropoids and most likely strepsirrhines. Anthropoid regressions for JJH are elevated above strepsirrhines, whereas catarrhines exhibit a higher slope than platyrrhines. Semipartial correlations between relative JJH and both CBA and AFK show no association across a small strepsirrhine sample, limited associations among catarrhines and anthropoids, but strong correlations in platyrrhines. Contrary to our hypothesis, however, increases in relative JJH are correlated with relatively less flexed basicrania and more airorhynch faces (i.e., reduced ventral bending) in platyrrhines. The mosaic pattern of relationships involving JJH across primate clades points to multiple influences on JJH across primates. In clades showing little association with basicranial and facial angles, such as strepsirrhines, the potential morphological independence of JJH may facilitate a relative freedom for evolutionary changes related to masticatory function. Finally, failure to associate relative JJH and basicranial flexion in most clades suggests that the relatively taller JJH and more flexed basicrania of anthropoids compared to strepsirrhines may have evolved as an isolated event during the origin of anthropoids.

The aponeurotic tension model of craniofacial growth in man.

Craniofacial growth is a scientific crossroad for the fundamental mechanisms of musculoskeletal physiology. Better understanding of growth and development will provide new insights into repair, regeneration and adaptation to applied loads. Traditional craniofacial growth concepts are insufficient to explain the dynamics of airway/vocal tract development, cranial rotation, basicranial flexion and the role of the cranial base in expression of facial proportions. A testable hypothesis is needed to explore the physiological pressure propelling midface growth and the role of neural factors in expression of musculoskeletal adaptation after the cessation of anterior cranial base growth. A novel model for craniofacial growth is proposed for: 1. brain growth and craniofacial adaptation up to the age of 20; 2. explaining growth force vectors; 3. defining the role of muscle plasticity as a conduit for craniofacial growth forces; and 4. describing the effect of cranial rotation in the expression of facial form.Growth of the viscerocranium is believed to be influenced by the superficial musculoaponeurotic systems (SMAS) of the head through residual tension in the occipitofrontalis muscle as a result of cephalad brain growth and cranial rotation. The coordinated effects of the regional SMAS develop a craniofacial musculoaponeurotic system (CFMAS), which is believed to affect maxillary and mandibular development.

Morphologic growth of the hominoid choanae: Implications for understanding functional integration of the basicranium and respiratory tract.

The internal nares (choanae) lie at the nexus of key respiratory tract functions, yet their comparative and functional morphology in hominoids has been poorly studied. We examined the growth of the choanae and adjacent facial and basicranial regions in crania of extant hominoids (Homo sapiens, n= 130; Pan troglodytes, n= 32; Gorilla gorilla n= 22; Pongo pygmaeus, n= 17; Symphalangus syndactylus, n= 19; Hylobates hoolock, n= 39) from eruption of the first through third permanent maxillary molars. Shape variation was quantified using 3D landmarks and analyzed with generalized procrustes analysis (GPA). Results show that ontogenetically the relative size and proportions of the choanae remained stable in all observed species. Humans are characterized by shorter, broader choanae than pongids, but not hylobatids, whose choanae are nearly twice as wide as they are tall. Among all hominoids, choanal area is negatively (and significantly; p&lt;.01) correlated with the area of the piriform aperture, flexion at the spheno‐occipital synchondrosis, and facial kyphosis. These results imply a functional relationship between the dimensions of the osseous nasopharynx and overall basicranial flexion.Grant Funding Sourcen/a

A quantitative method for the evaluation of three-dimensional structure of temporal bone pneumatization

Temporal bone pneumatization has been included in lists of characters used in phylogenetic analyses of human evolution. While studies suggest that the extent of pneumatization has decreased over the course of human evolution, little is known about the processes underlying these changes or their significance. In short, reasons for the observed reduction and the potential reorganization within pneumatized spaces are unknown. Technological limitations have limited previous analyses of pneumatization in extant and fossil species to qualitative observations of the extent of temporal bone pneumatization. In this paper, we introduce a novel application of quantitative methods developed for the study of trabecular bone to the analysis of pneumatized spaces of the temporal bone. This method utilizes high-resolution X-ray computed tomography (HRXCT) images and quantitative software to estimate three-dimensional parameters (bone volume fractions, anisotropy, and trabecular thickness) of bone structure within defined units of pneumatized spaces. We apply this approach in an analysis of temporal bones of diverse but related primate species, Gorilla gorilla, Pan troglodytes, Homo sapiens, and Papio hamadryas anubis, to illustrate the potential of these methods. In demonstrating the utility of these methods, we show that there are interspecific differences in the bone structure of pneumatized spaces, perhaps reflecting changes in the localized growth dynamics, location of muscle attachments, encephalization, or basicranial flexion.

Quantitative genetics of modern human cranial variation

The anatomy and biology of the basicranial complex and its relationships to the other cranial complexes has long played a central role in functional and phylogenetic interpretations of the hominin fossil record. Cranial traits frequently populate character lists in phylogenetic analyses and are commonly described as comprising an anatomical or functional complex. Most often these traits are treated as individual independent characters of equal phyletic value. Implicit in such considerations, however, is the assumption that the genetic contribution to morphological variation is high and equivalent across traits, and that phenotypic and genetic correlations between traits, irrespective of their magnitude, introduce negligible confounding effects in phylogenetic reconstruction (Hlusko, 2004). While the ability to quantify and assess phenotypic variation in craniofacial variables has seen significant advances in recent years, the extent to which genetic and nongenetic factors influence this variation is typically not addressed. A key component to understanding the influences environmental and genetic factors have on the evolution of the craniofacial complex is a solid foundation of detailed knowledge of the genetic components underlying the development of normal craniofacial variation in modern populations. The aim of the present study is to elucidate fundamental aspects of the genetic architecture of normal variation in the human craniofacial complex. In the current context, genetic architecture refers to the characterization of: (1) the extent to which variation in a trait is under genetic control, and (2) the degree to which two traits are controlled by the same genes or set of genes. The first of these is the heritability (h2) of a trait, and the second is the genetic correlation (ρG) between traits. Heritability estimates provide important information regarding the potential evolutionary response of traits to selective forces—the rate of evolutionary change being determined by the product of the heritability and the selection coefficient (Lynch and Walsh, 1998). Genetic correlations provide a means for quantifying the shared effects of genes on two or more traits. Genetic correlations have become critical in understanding the phenotypic heterogeneity observed in many craniofacial syndromes (Cohen, 2002), and have significant implications for the evolution of the hominin craniofacial complex. Human cranial variation: evidence from family-based studies Craniofacial morphometrics of archaeological or museum osteological collections have provided the field of human evolution with a broad perspective of craniofacial variation. These studies, however, cannot address issues of the genetic influence on trait variation, or covariation between traits. In order to adequately approach such issues, a large number of individuals of known biological relatedness is necessary. One such population is the Fels Longitudinal Study, which includes over 3,000 individuals belonging to ~250 families. Participants of the Fels Longitudinal Study have been the focus of numerous research articles including many that have had significant anthropological and human evolutionary significance, such as several papers detailing the growth and development of cranial structures (Young, 1956, 1957; Garn et al., 1963; Lewis and Roche, 1972, 1974; Roche and Lewis, 1974, 1976; Roche et al., 1977; Lewis et al., 1982, 1985; Ohtsuki et al., 1982a,b) and a classic paper investigating ontogenetic changes in basicranial flexion (i.e., the saddle angle; Lewis and Roche, 1977). In this report we seek to continue and extend the analysis of the Fels Longitudinal Study cranial data by presenting the first quantitative genetic analysis of the cranial data available in the archives.

Epigenetic interactions and the structure of phenotypic variation in the cranium

Understanding the developmental and genetic basis for evolutionarily significant morphological variation in complex phenotypes such as the mammalian skull is a challenge because of the sheer complexity of the factors involved. We hypothesize that even in this complex system, the expression of phenotypic variation is structured by the interaction of a few key developmental processes. To test this hypothesis, we created a highly variable sample of crania using four mouse mutants and their wild-type controls from similar genetic backgrounds with developmental perturbations to particular cranial regions. Using geometric morphometric methods we compared patterns of size, shape, and integration in the sample within and between the basicranium, neurocranium, and face. The results highlight regular and predictable patterns of covariation among regions of the skull that presumably reflect the epigenetic influences of the genetic perturbations in the sample. Covariation between relative widths of adjoining regions is the most dominant factor, but there are other significant axes of covariation such as the relationship between neurocranial size and basicranial flexion. Although there are other sources of variation related to developmental perturbations not analyzed in this study, the patterns of covariation created by the epigenetic interactions evident in this sample may underlie larger scale evolutionary patterns in mammalian craniofacial form.

Curvilinear, geometric and phylogenetic modeling of basicranial flexion: is it adaptive, is it constrained?

Prior work has shown that the degree of basicranial flexion among primates is determined by relative brain size, with anatomically modern humans possibly having a less flexed basicranium than expected for their relative brain size. Basicranial flexion has also been suggested to be adaptive in that it maintains a spheroid brain shape, thereby minimizing connections between different parts of the brain. In addition, it has been argued that the degree of flexion might be constrained such that increases in relative brain size beyond that seen in Australopithecus africanus were accommodated by mechanisms other than basicranial flexion. These hypotheses were evaluated by collating an extensive data set on basicranial flexion and relative brain size in primates and other mammals. The data were analyzed using standard least squares regression, geometric and curvilinear modeling, and phylogenetically independent contrasts (PICs). Geometric modeling does not support the hypothesis that flexion is an adaptation that facilitates enlargement of a spheroid brain. Whether humans have a less flexed basicranium than expected for their relative brain size depends on the phylogenetic vantage point from which it is evaluated. They are as flexed as expected for a descendant of the last common ancestor of the Paranthropus–Homo clade, but their degree of flexion cannot be predicted from the basal hominoid node, even if their relative brain size is specified. Humans undoubtedly occupy an unusual part of morphospace in terms of basicranial flexion and relative brain size, but this does not mean that their degree of flexion is or is not constrained. Curvilinear regression models and standard linear regression models describe the relationship between flexion and relative brain size equally well. Hypotheses that the degree of flexion is or is not constrained cannot be discriminated at present. Consideration of recently published ontogenetic data in the context of the interspecific data for adults suggests that much of the variance in basicranial flexion can still be explained as a mechanical consequence of brain enlargement relative to basicranial length.

Brain expansion and comparative prenatal ontogeny of the non-hominoid primate cranial base

The basicranium is the keystone of the primate skull, and understanding its morphological interdependence on surrounding soft-tissue structures, such as the brain, can reveal important mechanisms of skull development and evolution. In particular, several extensive investigations have shown that, across extant adult primates, the degree of basicranial flexion and petrous orientation are closely linked to increases in brain size relative to cranial base length. The aim of this study was to determine if an equivalent link exists during prenatal life. Specific hypotheses tested included the idea that increases in relative endocranial size (IRE5), relative infratentorial size (RIE), and differential encephalization (IDE) determine the degree of basicranial flexion and coronal petrous reorientation during non-hominoid primate fetal development. Cross-sectional fetal samples of Alouatta caraya (n=17) and Macaca nemestrina (n=24) were imaged using high-resolution magnetic resonance imaging (hrMRI). Cranial base angles (CBA), petrous orientations (IPA), base lengths, and endocranial volumes were measured from the images. Findings for both samples showed retroflexion, or flattening, of the cranial base and coronal petrous reorientation as well as considerable increases in absolute and relative brain sizes. Although significant correlations of both IRE5 and RIE were observed against CBA and IPA, the correlation with CBA was in the opposite direction to that predicted by the hypotheses. Variations of IDE were not significantly correlated with either angle. Correlations of IPA with IRE5 and RIE appeared to support the hypotheses. However, partial coefficients computed for all significant correlations indicated that changes to the fetal non-hominoid primate cranial base were more closely related to increases in body size than the hypothesized influence of relative brain enlargement. These findings were discussed together with those from a previous study of modern human fetuses.