Cranial Base (cranial + base)

Distribution by Scientific Domains

Terms modified by Cranial Base

  • cranial base angle

  • Selected Abstracts


    Aspects of achondroplasia in the skulls of dwarf transgenic mice: A cephalometric study

    THE ANATOMICAL RECORD : ADVANCES IN INTEGRATIVE ANATOMY AND EVOLUTIONARY BIOLOGY, Issue 3 2006
    Melissa Wadler Bloom
    Abstract Achondroplasia, the most common short-limbed dwarfism in humans, results from a single nucleotide substitution in the gene for fibroblast growth factor receptor 3 (FGFR3). FGFR3 regulates bone growth in part via the mitogen-activated protein kinase pathway (MAPK). To examine the role of this pathway in chondrocyte differentiation, a transgenic mouse was generated that expresses a constitutively active mutant of MEK1 in chondrocytes and exhibits dwarfing characteristics typical of human achondroplasia, i.e., shortened axial and appendicular skeletons, mid-facial hypoplasia, and dome-shaped cranium. In this study, cephalometrics of the MEK1 mutant skulls were assessed to determine if the MEK1 mice are a good model of achondroplasia. Skull length, arc of the cranial vault, and area, maximum and minimum diameters of the brain case were measured on digitized radiographs of skulls of MEK1 and control mice. Cranial base and nasal bone length and foramen magnum diameter were measured on midsagittal micro-CT sections. Data were normalized by dividing by the cube root of each animal's weight. Transgenic mice exhibited a domed skull, deficient midface, and (relatively) prognathic mandible and had a shorter cranial base and nasal bone than the wild-type. Skull length was significantly less in transgenic mice, but cranial arc was significantly greater. The brain case was larger and more circular and minimum diameter of the brain case was significantly greater in transgenic mice. The foramen magnum was displaced anteriorly but not narrowed. MEK1 mouse cephalometrics confirm these mice as a model for achondroplasia, demonstrating that the MAP kinase signaling pathway is involved in FGF signaling in skeletal development. © 2006 Wiley-Liss, Inc. [source]


    Muscle thickness and neuron density in the caecum of horses with chronic recurrent caecal impaction

    EQUINE VETERINARY JOURNAL, Issue S32 2000
    G. F. SCHUSSER
    Summary In this study, the hypothesis that caecal smooth muscle layers would be thinner and the linear neuron density of myenteric plexus greater was tested in normal horses compared to those with chronic recurrent caecal impaction. Four normal horses and 18 horses with chronic recurrent caecal impaction were subjected to euthanasia and 7 tissue samples were collected from each horse at different regions of the caecum (apex, dorsal body, cranial base, dorsal base, caudal base, caudal body, ventral body). Twelve horses with chronic recurrent caecal impaction were treated surgically. Only one tissue sample of the cranial part of the caecal base close to the caecocolic orifice was taken during surgery. The thickness of the circular muscle layer of all caecal regions measured in killed horses with chronic recurrent caecal impaction was significantly increased compared to the equivalent caecal region of normal horses. On the other hand, the longitudinal muscle layer was significantly thicker only in the cranial and caudal caecal base and in the dorsal region of the caecal body. The linear neuron densities of all caecal base areas and 2 caecal body regions, the caudal body region and of the apex, of killed horses with chronic recurrent caecal impaction were significantly lower compared with those in clinically normal horses. The circular muscle layer of all caecal regions was thickened (hypertrophied) probably as a consequence of chronic uncoordinated hypercontractility due to neuron deficit in the myenteric plexus of the caecal base. [source]


    Anterior cranial base reconstruction using free tissue transfer: Changing trends,

    HEAD & NECK: JOURNAL FOR THE SCIENCES & SPECIALTIES OF THE HEAD AND NECK, Issue 2 2003
    Joseph Califano MD
    Abstract Introduction. A consecutive series of 135 patients undergoing resection for malignant tumors involving the anterior cranial base between 1976 and 1999 was reviewed. Patient and Methods. In the years from 1976,1991, free-tissue transfer was used in 5 of 76 or 6.6% of cases, whereas free-tissue reconstruction was used in 24 of 59 or 40% of cases in the years 1992,1999. Of those cases reconstructed with free-tissue transfer in 1976,1991, 60% (three of five) underwent a complex resection defined as involving dura, brain, or more than one major structure adjacent to skull base. Of those patients reconstructed with conventional (pericranial or pericranial/galeal) pedicled flaps in this time period, 35% (25 of 71) underwent a complex resection. From 1992,1999, 75% (18 of 24) of patients reconstructed with free-tissue transfer received a complex resection, whereas only 6% (2 of 35) of patients reconstructed by other means received a complex resection. Outcomes. For those patients reconstructed by free-tissue transfer, there were no instances of flap loss. Comparison of these two time periods was notable for a similar patient composition in terms of age, histologic findings, and extent of resection. Major complication rates for patients who are reconstructed with free-tissue transfer for anterior cranial base resections (31%) are similar compared with patients who have been reconstructed with conventional pedicled flaps (35%). This was noted despite an increased extent and complexity of resection in those patients who underwent free-tissue transfer reconstruction (72%) compared with those patients reconstructed by more conventional means (26%) p < .001. Conclusion. In our institution, the use of vascularized, free-tissue transfer has replaced pedicled flaps as the preferred modality for reconstructing complex anterior cranial base defects involving resection of dura, brain, or multiple major structures adjacent to local skull base, including the orbit, palate, and other structures. Complication rates for patients reconstructed with free-tissue transfer techniques is similar to those patients reconstructed by conventional techniques, despite an increase in complexity of resection in this group. © 2002 Wiley Periodicals, Inc. Head Neck 24: 000,000, 2002 [source]


    The pattern of endocranial ontogenetic shape changes in humans

    JOURNAL OF ANATOMY, Issue 3 2009
    Simon Neubauer
    Abstract Humans show a unique pattern of brain growth that differentiates us from all other primates. In this study, we use virtual endocasts to provide a detailed description of shape changes during human postnatal ontogeny with geometric morphometric methods. Using CT scans of 108 dried human crania ranging in age from newborns to adults and several hundred landmarks and semi-landmarks, we find that the endocranial ontogenetic trajectory is curvilinear with two bends, separating three distinct phases of shape change. We test to what extent endocranial shape change is driven by size increase and whether the curved ontogenetic trajectory can be explained by a simple model of modular development of the endocranial base and the endocranial vault. The hypothesis that endocranial shape change is driven exclusively by brain growth is not supported; we find changes in endocranial shape after adult size has been attained and that the transition from high rates to low rates of size increase does not correspond to one of the shape trajectory bends. The ontogenetic trajectory of the endocranial vault analyzed separately is nearly linear; the trajectory of the endocranial base, in contrast, is curved. The endocranial vault therefore acts as one developmental module during human postnatal ontogeny. Our data suggest that the cranial base comprises several submodules that follow their own temporally and/or spatially disjunct growth trajectories. [source]


    Prenatal growth and development of the modern human labyrinth

    JOURNAL OF ANATOMY, Issue 2 2004
    Nathan Jeffery
    Abstract The modern human bony labyrinth is morphologically distinct from that of all other primates, showing derived features linked with vestibular function and the overall shape of the cranial base. However, little is known of how this unique morphology emerges prenatally. This study examines in detail the developing fetal human labyrinth, both to document this basic aspect of cranial biology, and more specifically, to gain insight into the ontogenetic basis of its phylogenetically derived morphology. Forty-one post-mortem human fetuses, ranging from 9 to 29 weeks gestation, were investigated with high-resolution magnetic resonance imaging. Quantitative analyses of the labyrinthine morphology revealed a number of interesting age-related trends. In addition, our findings show that: (1) the prenatal labyrinth attains an adult equivalent size between 17 and 19 weeks gestation; (2) within the period investigated, shape changes to all or most of the labyrinth cease after the 17,19-week size maturation point or after the otic capsule ossifies; (3) fetal cochlea development correlates with the surrounding petrosal morphology, but not with the midline basicranium; (4) gestational age-related rotations of the ampullae and cochlea relative to the lateral canal, and posterior canal torsion are similar to documented phylogenetic trends whereas other trends remain distinct. Findings are discussed in terms of the ontogenetic processes and mechanisms that most likely led, in part, to the emergence of the phylogenetically derived adult modern human labyrinth. [source]


    Hyoid apparatus and pharynx in the lion (Panthera leo), jaguar (Panthera onca), tiger (Panthera tigris), cheetah (Acinonyx jubatus) and domestic cat (Felis silvestris f. catus)

    JOURNAL OF ANATOMY, Issue 3 2002
    G. E. Weissengruber
    Abstract Structures of the hyoid apparatus, the pharynx and their topographical positions in the lion, tiger, jaguar, cheetah and domestic cat were described in order to determine morphological differences between species or subfamilies of the Felidae. In the lion, tiger and jaguar (species of the subfamily Pantherinae) the Epihyoideum is an elastic ligament lying between the lateral pharyngeal muscles and the Musculus (M.) thyroglossus rather than a bony element like in the cheetah or the domestic cat. The M. thyroglossus was only present in the species of the Pantherinae studied. In the lion and the jaguar the Thyrohyoideum and the thyroid cartilage are connected by an elastic ligament, whereas in the tiger there is a synovial articulation. In adult individuals of the lion, tiger and jaguar the ventral end of the tympanohyal cartilage is rotated and therefore the ventral end of the attached Stylohyoideum lies caudal to the Tympanohyoideum and the cranial base. In newborn jaguars the Apparatus hyoideus shows a similar topographical position as in adult cheetahs or domestic cats. In adult Pantherinae, the Basihyoideum and the attached larynx occupy a descended position: they are situated near the cranial thoracic aperture, the pharyngeal wall and the soft palate are caudally elongated accordingly. In the Pantherinae examined the caudal end of the soft palate lies dorsal to the glottis. Differences in these morphological features between the subfamilies of the Felidae have an influence on specific structural characters of their vocalizations. [source]


    Noggin Inhibits Postoperative Resynostosis in Craniosynostotic Rabbits,

    JOURNAL OF BONE AND MINERAL RESEARCH, Issue 7 2007
    Gregory M Cooper PhD
    Abstract Inhibition of bone formation after surgery to correct craniosynostosis would alleviate the need for secondary surgeries and decrease morbidity and mortality. This study used a single dose of Noggin protein to prevent resynostosis and improve postoperative outcomes in a rabbit model of craniosynostosis. Introduction: Craniosynostosis is defined as the premature fusion of one or more of the cranial sutures, which causes secondary deformations of the cranial vault, cranial base, and brain. Current surgical intervention involves extirpation of the fused suture to allow unrestricted brain growth. However, resynostosis of the extirpated regions often occurs. Several bone morphogenetic proteins (BMPs), well-described inducers of ossification, are involved in bone healing. This study tested the hypothesis that a postoperative treatment with Noggin, an extracellular BMP inhibitor, can inhibit resynostosis in a rabbit model of human familial nonsyndromic craniosynostosis. Materials and Methods: Thirty-one New Zealand white rabbits with bilateral coronal suture synostosis were divided into three groups: (1) suturectomy controls (n = 13); (2) suturectomy with BSA in a slow-resorbing collagen vehicle, (n = 8); and (3) suturectomy with Noggin in a slow-resorbing collagen vehicle (n = 10). At 10 days of age, a 3 × 15-mm coronal suturectomy was performed. The sites in groups 2 and 3 were immediately filled with BSA-loaded gel or Noggin-loaded gel, respectively. Serial 3D-CT scan reconstructions of the defects and standard radiographs were obtained at 10, 25, 42, and 84 days of age, and the sutures were harvested for histological analysis. Results: Radiographic analysis revealed that Noggin-treated animals had significantly greater coronal suture marker separation by 25 days and significantly greater craniofacial length at 84 days of age compared with controls. 3D-CT analysis revealed that Noggin treatment led to significantly greater defect areas through 84 days and to increased intracranial volumes at 84 days of age compared with other groups. Histological analysis supported CT data, showing that the untreated and BSA-treated groups had significant healing of the suturectomy site, whereas the Noggin-treated group had incomplete wound healing. Conclusions: These data support our hypothesis that inhibition of BMP activity using Noggin may prevent postoperative resynostosis in this rabbit model. These findings also suggest that Noggin therapy may have potential clinical use to prevent postoperative resynostosis in infants with craniosynostosis. [source]


    Hutchinson-Gilford progeria syndrome: oral and craniofacial phenotypes

    ORAL DISEASES, Issue 3 2009
    DL Domingo
    Objective:, Hutchinson-Gilford progeria syndrome (HGPS) is a rare early-onset accelerated senescence syndrome. In HGPS, a recently identified de novo dominant mutation of the lamin A gene (LMNA) produces abnormal lamin A, resulting in compromised nuclear membrane integrity. Clinical features include sclerotic skin, cardiovascular and bone abnormalities, and marked growth retardation. Craniofacial features include ,bird-like' facies, alopecia, craniofacial disproportion, and dental crowding. Our prospective study describes dental, oral soft tissue, and craniofacial bone features in HGPS. Methods:, Fifteen patients with confirmed p.G608G LMNA mutation (1,17 years, seven males, eight females) received comprehensive oral evaluations. Anomalies of oral soft tissue, gnathic bones, and dentition were identified. Results:, Radiographic findings included hypodontia (n = 7), dysmorphic teeth (n = 5), steep mandibular angles (n = 11), and thin basal bone (n = 11). Soft tissue findings included ogival palatal arch (n = 8), median sagittal palatal fissure (n = 7), and ankyloglossia (n = 7). Calculated dental ages (9 months to 11 years 2 months) were significantly lower than chronological ages (1 year 6 months to 17 years 8 months) (P = 0.002). Eleven children manifested a shorter mandibular body, anterior/posterior cranial base and ramus, but a larger gonial angle, compared to age/gender/race norms. Conclusion:, Novel oral-craniofacial phenotypes and quantification of previously reported features are presented. Our findings expand the HGPS phenotype and provide additional insight into the complex pathogenesis of HGPS. [source]


    Craniofacial skeletal deviations following in utero exposure to the anticonvulsant phenytoin: monotherapy and polytherapy

    ORTHODONTICS & CRANIOFACIAL RESEARCH, Issue 1 2003
    HI Orup Jr
    Structured Abstract Authors , Orup Jr HI, Holmes LB, Keith DA, Coull BA. Objective , To identify and quantify the craniofacial effects from prenatal exposure to phenytoin monotherapy and polytherapy using cephalometric, hand-wrist, and panoramic radiographs and to determine if such deviations persist with age. Design , Craniofacial structures of 28 anticonvulsant-exposed individuals were evaluated using 20 landmarks in lateral cephalometric radiographs and 19 landmarks in frontal cephalometric radiographs. Skeletal maturity was assessed using hand-wrist radiographs. Dental maturity and the presence of dental anomalies were evaluated using panoramic radiographs. Eleven individuals were re-evaluated 7 years later, on average, to determine the persistence of any measured deviations. Setting and Sample Population , Department of Growth and Development, Harvard School of Dental Medicine and Massachusetts General Hospital. Patients were recruited from several sources. Outcome Measure , The evaluated dimensions included linear, angular, and proportional measures. Results , The most common deviations were decreased height and length of the maxilla, decreased length of the posterior cranial base, length of the mandible, cranial width and level of the cribriform plate, and a decrease in the Wits Appraisal assessment. The deviations were more significant in the polytherapy-exposed individuals than in the monotherapy-exposed individuals. These deviations, especially in the maxilla, persisted with age as revealed in a re-evaluation of 11 individuals. Conclusion , The craniofacial skeletal findings among individuals exposed in utero to phenytoin monotherapy or phenytoin polytherapy, when considered in aggregate, suggest a mild pattern of maxillary hypoplasia that becomes more pronounced with age. [source]


    Brief communication: Sexual dimorphism of the juvenile basicranium

    AMERICAN JOURNAL OF PHYSICAL ANTHROPOLOGY, Issue 1 2010
    Adam Veroni
    Abstract The purpose of this article is to examine the level of sexual dimorphism exhibited in the foramen magnum and occipital condyles of juveniles, and to test the utility of this sexual dimorphism for estimating sex. Using five basicranial measurements taken from 36 juveniles of known sex and age from the Lisbon documented collection (Portugal), we evaluated sexual dimorphism in the juvenile cranial base. Our application of a method previously applied solely to adults indicated that the basicranium is sexually dimorphic in juveniles, with larger foramen magnum and occipital condyle dimensions observed in males. Significant univariate differences between males and females were found for length and breadth of the foramen magnum, and breadth of the left occipital condyle. Using these measurements, multivariate discriminant analysis indicated that sex was correctly assigned 75.8% of time. Obtained accuracy, however, was lower than reported by previous studies of adult samples. We suggest that this discrepancy is a result of population variability rather than age. Am J Phys Anthropol 2010. © 2009 Wiley-Liss, Inc. [source]


    Is Central Asia the eastern outpost of the Neandertal range?

    AMERICAN JOURNAL OF PHYSICAL ANTHROPOLOGY, Issue 1 2009
    A reassessment of the Teshik-Tash child
    Abstract Since its discovery in southeastern Uzbekistan in 1938, the Teshik-Tash child has been considered a Neandertal. Its affinity is important to studies of Late Pleistocene hominin growth and development as well as interpretations of the Central Asian Middle Paleolithic and the geographic distribution of Neandertals. A close examination of the original Russian monograph reveals the incompleteness of key morphologies associated with the cranial base and face and problems with the reconstruction of the Teshik-Tash cranium, making its Neandertal attribution less certain than previously assumed. This study reassesses the Neandertal status of Teshik-Tash 1 by comparing it to a sample of Neandertal, Middle and Upper Paleolithic modern humans, and recent human sub-adults. Separate examinations of the cranium and mandible are conducted using multinomial logistic regression and discriminant function analysis to assess group membership. Results of the cranial analysis group Teshik-Tash with Upper Paleolithic modern humans when variables are not size-standardized, while results of the mandibular analysis place the specimen with recent modern humans for both raw and size-standardized data. Although these results are influenced by limitations related to the incomplete nature of the comparative sample, they suggest that the morphology of Teshik-Tash 1 as expressed in craniometrics is equivocal. Although, further quantitative studies as well as additional sub-adult fossil finds from this region are needed to ascertain the morphological pattern of this specimen specifically, and Central Asian Middle Paleolithic hominins in general, these results challenge current characterizations of this territory as the eastern boundary of the Neandertal range during the Late Pleistocene. Am J Phys Anthropol, 2009. © 2008 Wiley-Liss, Inc. [source]


    A cranial base of Australopithecus robustus from the hanging remnant of Swartkrans, South Africa

    AMERICAN JOURNAL OF PHYSICAL ANTHROPOLOGY, Issue 4 2006
    Darryl J. de Ruiter
    Abstract SKW 18, a partial hominin cranium recovered from the site of Swartkrans, South Africa, in 1968 is described. It is derived from ex situ breccia of the Hanging Remnant of Member 1, dated to approximately 1.5,1.8 Mya. Although partially encased in breccia, it was refit to the facial fragment SK 52 (Clarke 1977 The Cranium of the Swartkrans Hominid SK 847 and Its Relevance to Human Origins, Ph.D. dissertation, University of the Witwatersrand, Johannesburg), producing the composite cranium SKW 18/SK 52. Subsequent preparation revealed the most complete cranial base attributable to the species Australopithecus robustus. SKW 18 suffered weathering and slight postdepositional distortion, but retains considerable anatomical detail. The composite cranium most likely represents a large, subadult male, based on the incomplete fusion of the spheno-occipital synchondrosis; unerupted third molar; pronounced development of muscular insertions; and large teeth. Cranial base measures of SKW 18 expand the range of values previously recorded for A. robustus. SKW 18 provides information on anatomical features not previously visible in this taxon, and expands our knowledge of morphological variability recognizable in the cranial base. Morphological heterogeneity in the development of the prevertebral and nuchal muscular insertions is likely the result of sexual dimorphism in A. robustus, while differences in cranial base angles and the development of the occipital/marginal sinus drainage system cannot be attributed to size dimorphism. Am J Phys Anthropol, 2006. © 2006 Wiley-Liss, Inc. [source]


    Brain size and encephalization in early to Mid-Pleistocene Homo

    AMERICAN JOURNAL OF PHYSICAL ANTHROPOLOGY, Issue 2 2004
    G. Philip Rightmire
    Abstract Important changes in the brain have occurred during the course of human evolution. Both absolute and relative size increases can be documented for species of Homo, culminating in the appearance of modern humans. One species that is particularly well-represented by fossil crania is Homo erectus. The mean capacity for 30 individuals is 973 cm3. Within this group there is substantial variation, but brain size increases slightly in specimens from later time periods. Other Middle Pleistocene crania differ from those of Homo erectus. Characters of the facial skeleton, vault, and cranial base suggest that fossils from sites such as Arago Cave in France, the Sima de los Huesos in Spain, Bodo in Ethiopia, Broken Hill in Zambia, and perhaps Dali in China belong to the taxon Homo heidelbergensis. Ten of these mid-Quaternary hominins have brains averaging 1,206 cm3 in volume, and many fall beyond the limits of size predicted for Homo erectus of equivalent age. When orbit height is used to construct an index of relative brain size, it is apparent that the (significant) increase in volume documented for the Middle Pleistocene individuals is not simply a consequence of larger body mass. Encephalization quotient values confirm this finding. These changes in absolute and relative brain size can be taken as further corroborative evidence for a speciation event, in which Homo erectus produced a daughter lineage. It is probable that Homo heidelbergensis originated in Africa or western Eurasia and then ranged widely across the Old World. Archaeological traces indicate that these populations differed in their technology and behavior from earlier hominins. Am J Phys Anthropol, 2003. © 2003 Wiley-Liss, Inc. [source]


    Brain size and the human cranial base: A prenatal perspective

    AMERICAN JOURNAL OF PHYSICAL ANTHROPOLOGY, Issue 4 2002
    Nathan Jeffery
    Abstract Pivotally positioned as the interface between the neurocranium and the face, the cranial base has long been recognized as a key area to our understanding of the origins of modern human skull form. Compared with other primates, modern humans have more coronally orientated petrous bones and a higher degree of basicranial flexion, resulting in a deeper and wider posterior cranial fossa. It has been argued that this derived condition results from a phylogenetic increase in the size of the brain and its subcomponents (infra- and supratentorial volumes) relative to corresponding lengths of the cranial base (posterior and anterior, respectively). The purpose of this study was to test such evolutionary hypotheses in a prenatal ontogenetic context. We measured the degree of basicranial flexion, petrous reorientation, base lengths, and endocranial volumes from high-resolution magnetic resonance images (hrMRI) of 46 human fetuses ranging from 10,29 weeks of gestation. Bivariate comparisons with age revealed a number of temporal trends during the period investigated, most notable of which were coronal rotation of the petrous bones and basicranial retroflexion (flattening). Importantly, the results reveal significant increases of relative endocranial sizes across the sample, and the hypotheses therefore predict correlated variations of cranial base flexion and petrous orientation in accordance with these increases. Statistical analyses did not yield results as predicted by the hypotheses. Thus, the propositions that base flexion and petrous reorientation are due to increases of relative endocranial sizes were not corroborated by the findings of this study, at least for the period investigated. Am J Phys Anthropol 118:324,340, 2002. © 2002 Wiley-Liss, Inc. [source]


    New Insight on the Anatomy and Architecture of the Avian Neurocranium

    THE ANATOMICAL RECORD : ADVANCES IN INTEGRATIVE ANATOMY AND EVOLUTIONARY BIOLOGY, Issue 3 2009
    Jesús Marugán-Lobón
    Abstract This study aims to disentangle the main features of the avian neurocranium at high taxonomic scales using geometric morphometric tools. When surveying the variation across 60% of avian orders (sampled among 72 individuals), our results verify that the central nervous system has an important influence upon the architecture of the avian neurocranium, as in other very encephalized vertebrates such as mammals. When the avian brain expands relative to the cranial base it causes more "reptilian-like" neurocranial configurations to shape into rounder ones. This rounder appearance is achieved because the cranial base becomes relatively shorter and turns its flexure from concave to convex, at the same time forcing the foramen magnum to reorient ventrally instead of caudally. However, our analyses have also revealed that an important morphological difference between birds resides between the occiput and the cranial roof. This variation was unexpected since it had not been reported thus far, and entertains two plausible interpretations. Although it could be due to a trade-off between the relative sizes of the supraoccipital and the parietal bones, the presence of an additional bone (the intra- or post-parietal) between the latter two bones could also explain the variation congruently. This descriptive insight stresses the need for further developmental studies focused in understanding the evolutionary disparity of the avian neurocranium. Anat Rec, 292:364,370, 2009. © 2009 Wiley-Liss, Inc. [source]


    Aspects of achondroplasia in the skulls of dwarf transgenic mice: A cephalometric study

    THE ANATOMICAL RECORD : ADVANCES IN INTEGRATIVE ANATOMY AND EVOLUTIONARY BIOLOGY, Issue 3 2006
    Melissa Wadler Bloom
    Abstract Achondroplasia, the most common short-limbed dwarfism in humans, results from a single nucleotide substitution in the gene for fibroblast growth factor receptor 3 (FGFR3). FGFR3 regulates bone growth in part via the mitogen-activated protein kinase pathway (MAPK). To examine the role of this pathway in chondrocyte differentiation, a transgenic mouse was generated that expresses a constitutively active mutant of MEK1 in chondrocytes and exhibits dwarfing characteristics typical of human achondroplasia, i.e., shortened axial and appendicular skeletons, mid-facial hypoplasia, and dome-shaped cranium. In this study, cephalometrics of the MEK1 mutant skulls were assessed to determine if the MEK1 mice are a good model of achondroplasia. Skull length, arc of the cranial vault, and area, maximum and minimum diameters of the brain case were measured on digitized radiographs of skulls of MEK1 and control mice. Cranial base and nasal bone length and foramen magnum diameter were measured on midsagittal micro-CT sections. Data were normalized by dividing by the cube root of each animal's weight. Transgenic mice exhibited a domed skull, deficient midface, and (relatively) prognathic mandible and had a shorter cranial base and nasal bone than the wild-type. Skull length was significantly less in transgenic mice, but cranial arc was significantly greater. The brain case was larger and more circular and minimum diameter of the brain case was significantly greater in transgenic mice. The foramen magnum was displaced anteriorly but not narrowed. MEK1 mouse cephalometrics confirm these mice as a model for achondroplasia, demonstrating that the MAP kinase signaling pathway is involved in FGF signaling in skeletal development. © 2006 Wiley-Liss, Inc. [source]


    Craniofacial cephalometric morphology in children with CATCH 22 syndrome

    ORTHODONTICS & CRANIOFACIAL RESEARCH, Issue 4 2006
    A Heliövaara
    Structured abstract Authors ,, Heliövaara A, Hurmerinta K Objectives ,, To evaluate cephalometrically the craniofacial, pharyngeal and cervical morphology in children with CATCH 22, and to compare and quantify the findings with age- and sex-matched controls. Design ,, A retrospective case,control study. Setting and Sample Population , Forty-one children (20 girls) with CATCH 22 were compared with age- and sex-matched controls from lateral cephalograms taken at the mean age of 8.5 years (range 5.8,12.9). The deletion of 22q11 was verified by fluorescence in situ hybridization techniques. Thirteen of the children with CATCH 22 had palatal clefts. Outcome measure ,, Linear and angular measurements were obtained from lateral cephalograms. A Student's t -test and a paired Student's t -test were used in the statistical analysis. Standard deviation scores (SDS) were calculated to quantify the variation. Results ,, Children with CATCH 22 had obtuse cranial base angles and long anterior cranial bases. Their faces were long with increased facial convexity. The maxillae were long but both jaws were retrognathic and the lower jaws posteriorly diverged. The pharynges were wide in the nasopharyngeal area and narrow in the hypopharyngeal area. The development of the hyoid bones was delayed, and hyoid bone and atlas lengths were reduced. The morphology of the children with CATCH 22 with and without a palatal cleft was similar. Despite several statistically significant differences between the children with CATCH 22 and the controls, the SDS did not exceed ±2 for any of the measurements. Conclusion ,, Children with CATCH 22 have several minor distinctive morphological features in the craniofacial, pharyngeal, and cervical areas. [source]


    Sex determination from the occipital condyle: Discriminant function analysis in an Eighteenth and Nineteenth Century British sample

    AMERICAN JOURNAL OF PHYSICAL ANTHROPOLOGY, Issue 4 2009
    René Gapert
    Abstract Fragmentary human remains compromised by different types of inhumation, or physical insults such as explosions, fires, and mutilations may frustrate the use of traditional morphognostic sex determination methods. The basicranium is protected by a large soft tissue mass comprising muscle, tendon, and ligaments. As such, the occipital region may prove useful for sex identification in cases of significantly fragmented remains. The aims of this paper are to (1) evaluate sexual dimorphism in British cranial bases by manually recorded unilateral and bilateral condylar length and width as well as intercondylar measurements and (2) develop discriminant functions for sex determination for this cranial sample. The crania selected for this study are part of the 18th,19th century documented skeletal collection of St. Bride's Church, Fleet Street, London. Adult human skulls (n = 146; ,75/,71) were measured to derive statistical functions. Results indicated that expression of sexual dimorphism in the occipital condylar region within the St. Bride's population is demonstrable but low. Crossvalidated classification accuracy ranged between 69.2 and 76.7%, and sex bias ranged from 0.3 to 9.7%. Therefore, the use of discriminant functions derived from occipital condyles, especially in British skeletal populations, should only be considered in cases of fragmented cranial bases when no other morphognostic or morphometric method can be utilized for sex determination. Am J Phys Anthropol, 2009. © 2008 Wiley-Liss, Inc. [source]