Quantitative study of the ossification centers of the body of sphenoid bone in the human fetus.

The aim of the present study was to examine the growth dynamics of the two ossification centers of the body of sphenoid bone in the human fetus, based on their linear, planar and volumetric parameters. The examinations were carried out on 37 human fetuses of both sexes aged 18-30 weeks of gestation, which had been preserved in 10% neutral formalin solution. Using CT, digital image analysis software, 3D reconstruction and statistical methods, we evaluated the size of the presphenoid and postsphenoid ossification centers. The presphenoid ossification center grew proportionately in sagittal diameter, projection surface area and volume, and logarithmically in transverse diameter. The postsphenoid ossification center increased logarithmically in sagittal diameter, transverse diameter and projection surface area, while its volumetric growth followed proportionately. The numerical findings of the presphenoid and postsphenoid ossification centers may be considered age-specific reference values of potential relevance in monitoring the normal fetal growth and screening for congenital disorders in the fetus. The obtained results may contribute to a better understanding of the growing fetal skeleton, bringing new numerical information regarding its diagnosis and development.

Feasibility of spheno-occipital synchondrosis fusion stages as an indicator for the assessment of maxillomandibular growth: A mixed longitudinal study.

OBJECTIVES: This study aimed to assess the relative growth rates (RGRs) of the maxilla and mandible at varying fusion stages of the spheno-occipital synchondrosis (SOS), thereby elucidating the potential of SOS stages in predicting maxillomandibular growth. MATERIALS AND METHODS: A total of 320 subjects (171 boys and 149 girls), aged 6 to 18 years, were retrospectively included. Each subject had a minimum of two longitudinal cone-beam computed tomography (CBCT) images, with no more than one interval of SOS fusion stage change between the two scans. Subjects were categorized based on their SOS fusion stages and genders. The RGRs of the maxilla and mandible at various SOS fusion stages were measured and compared using longitudinal CBCT images. RESULTS: Significant statistical differences were observed in maxillomandibular RGRs across various SOS fusion stages. In girls, the sagittal growth of the maxilla remained stable and active until SOS 3, subsequently exhibited deceleration in SOS 4-5 (compared to SOS 3-4, P < .05) and continued to decrease in SOS 5-6. Whereas in boys, the sagittal growth of the maxilla remained stable until SOS 4, and a deceleration trend emerged starting from SOS 5 to 6 (P < .01 compared to SOS 4-5). Mandibular growth patterns in both genders exhibited a progression of increasing-accelerating-decelerating rates from SOS 2 to 6. The highest RGRs for total mandibular length were observed in SOS 3-4 and SOS 4-5. CONCLUSION: Spheno-occipital synchondrosis fusion stages can serve as a valid indicator of maxillomandibular growth maturation.

Effect of C-type natriuretic peptide on craniofacial skeletogenesis in mice during the pubertal growth spurt.

OBJECTIVE: This study aimed to determine the effect of C-type natriuretic peptide (CNP) overexpression on craniofacial growth during the pubertal growth period in mice. DESIGN: Six-week-old C57BL/6 mice were injected with pLIVE-Empty vectors (Control mice) and pLIVE-NPPC vectors (CNP mice) using the hydrodynamic method. Morphological analyses were performed at the age of 12 weeks. RESULTS: Micro-computed tomography (µCT) images showed significant (p < 0.05) hyperplasia in the maxilla along the sagittal plane (CNP mice: 13.754 mm, Control mice: 13.215 mm). Further, the images revealed significant bone overgrowth in the sagittal direction in the sphenoid (CNP mice: 6.936 mm, Control mice: 6.411 mm) and occipital (CNP mice: 4.051 mm, Control mice: 3.784 mm) bones in the CNP mice compared with that in the Control mice. Compared with SAP-Nppc-Tg mice in previous studies, although there was no effect on nose length and nasal bone length, the effect was sufficient to improve craniofacial hypogrowth. Furthermore, CNP promoted sagittal cranial growth by increasing the thickness of the spheno-occipital synchondrosis in organ cultures and nasal septal cartilage in micromass cultures, which were derived from 6-week-old mice. CONCLUSIONS: We have previously shown that the elevated blood levels of CNP from the neonatal period affect midfacial skeletogenesis by promoting endochondral ossification using mice (SAP-Nppc-Tg mice). The overexpression of CNP, even in 6-weeks-old mice, promoted growth in the sagittal direction within the maxillary region. These findings indicate the therapeutic potential of CNP for the treatment of midfacial hypoplasia during the pubertal growth spurt.

Effect of clival bone growth on the localization of the abducens nerve at the petroclival region: a postmortem anatomical study.

PURPOSE: To investigate the effect of the clival bone pattern on the abducens nerve (AN) localization in the petroclival region between the Pediatric and Adult Groups. METHODS: This study used 12 pediatric and 17 adult heads obtained from the autopsy. The length and width of the clivus and the length of the petrosphenoidal ligaments (PSLs) were measured. The ratio of the length and width of the clivus was accepted as the clival index (CI). The localization of the AN at the petroclival region below the PSL, classified as lateral and medial, were recorded. RESULTS: The average length of the clivus was 26.92 ± 2.88 mm in the Pediatric Group, and 40.66 ± 4.17 mm in the Adult Group (p < 0.001). The average width of the clivus was 22.35 ± 2.88 mm in the Pediatric Group, and 29.96 ± 3.86 mm in the Adult Group (p < 0.001). The average value of the CI was 1.20 in the Pediatric Group and 1.36 in the Adult Group (p = 0.003). The length of the PSL was 7.0 ± 1.47 mm in the Pediatric Group and 11.05 ± 2.95 mm in the Adult Group (p < 0.001). The nerve was located below the medial side of the PSL in the Pediatric Group and below the lateral side in the Adult Group (p = 0.002). CONCLUSIONS: The petrous apex localization of the AN in adults compared with pediatric subjects could be related to the increased growth in the length of the clivus than its width.

A Computed Tomographic Analysis of Spheno-Occipital Synchondrosis Ossification for Age Estimation in a Sample of Egyptians.

ABSTRACT: The aim of the present work was to create statistically quantified age estimation standards based on spheno-occipital synchondrosis (SOS) fusion state as visualized in computed tomography in Egyptians. The study included 208 Egyptians between the ages of 5 and 30 years (117 male and 90 female participants). Spheno-occipital synchondrosis was visualized in a midsagittal view in a neutral head position. Degree of ossification of SOS was assessed using a 4-stage system. Interobserver agreement and intraobserver agreement were almost perfect with Cohen κ values of 0.863 and 0.983, respectively. The mean ages of complete fusion (stage 3) were 20.36 ± 3.11 and 20.94 ± 4.06 years in male and female participants, respectively. Nonfusion (stage 0) was observed up to 15 and 13 years in male and female participants, respectively. Complete fusion occurred as early as 15 and 13 years in male and female participants, respectively. All subjects with nonfused SOS were minors (<18 years). A total of 87.9% of male participants and 85.3% of female participants with completely fused SOS were legally adults (≥18 years). Significant regression models were formulated to predict age from SOS fusion stage (adjusted R2 = 0.779 for male participants and 0.780 for female participants). Regression models predicted that male and female participants 18 years or older with 96.30% and 95.59% accuracy, respectively.

Morphological association between the muscles and bones in the craniofacial region.

The strains of inbred laboratory mice are isogenic and homogeneous for over 98.6% of their genomes. However, geometric morphometric studies have demonstrated clear differences among the skull shapes of various mice strains. The question now arises: why are skull shapes different among the mice strains? Epigenetic processes, such as morphological interaction between the muscles and bones, may cause differences in the skull shapes among various mice strains. To test these predictions, the objective of this study is to examine the morphological association between a specific part of the skull and its adjacent muscle. We examined C57BL6J, BALB/cA, and ICR mice on embryonic days (E) 12.5 and 16.5 as well as on postnatal days (P) 0, 10, and 90. As a result, we found morphological differences between C57BL6J and BALB/cA mice with respect to the inferior spine of the hypophyseal cartilage or basisphenoid (SP) and the tensor veli palatini muscle (TVP) during the prenatal and postnatal periods. There was a morphological correlation between the SP and the TVP in the C57BL6J, BALB/cA, and ICR mice during E15 and P0. However, there were not correlation between the TVP and the SP during P10. After discectomy, bone deformation was associated with a change in the shape of the adjacent muscle. Therefore, epigenetic modifications linked to the interaction between the muscles and bones might occur easily during the prenatal period, and inflammation seems to allow epigenetic modifications between the two to occur.

Time and pattern of the fusion of the spheno-occipital synchondrosis in patients with skeletal Class I and Class III malocclusion.

OBJECTIVES: To investigate the time and pattern of fusion of the spheno-occipital synchondrosis in patients with skeletal Class I and Class III malocclusion using cone-beam computed tomography (CBCT). MATERIALS AND METHODS: A total of 262 CBCT images were collected: 140 skeletal Class I (0° < ANB < 4°; 71 males, 69 females) and 122 skeletal Class III (ANB ≤ 0°; 61 males and 61 females). The fusion stages were identified using CBCT images of a six-stage system defined by the appearance of osseous cores and ossifying vestige in the synchondrosis. The age distributions of each stage and the pattern of fusion were evaluated. RESULTS: The stages of fusion progressed with increasing age (P < .05, r = .824), and the age distributions in the female groups were generally 1 to 3 years younger than those in the male groups. However, no significant differences were observed between the skeletal Class I and Class III groups regarding the time of ossification of the synchondrosis. The osseous cores appeared most frequently in the supero-center part, followed by the mid-center part of the synchondrosis. CONCLUSIONS: The time and pattern of fusion of the spheno-occipital synchondrosis are not apparently different between patients with Class I malocclusion and those with Class III malocclusion. The osseous cores appear frequently in the supero-center and mid-center of the synchondrosis with various patterns before the end of the pubertal growth spurt period.

Temporal Progression of Craniofacial Dysmorphology in Unilateral Coronal Synostosis: A Mechanistic Hypothesis.

AIM: This study chronicles skull base and face development in nonsyndromic unilateral coronal synostosis (UCS) during infancy, to characterize the mechanistic progression of facial dysmorphology. METHODS: Computed tomography scans from 51 subjects were reviewed (26 UCS, 25 controls) and data were reconstructed. Patients were stratified into 5 age groups. A series of measurements were taken from the reconstructions. RESULTS: All patients had a unilaterally fused coronal suture at the time of analysis. Asymmetry of the sphenoid wings was present across all age groups. The sphenoid wing ipsilateral to the fused suture consistently had a more acute angle from the midline. At 19 days of age, ipsilateral nasal root and cribriform plate deviation are noted, as well as increased contralateral zygoma antero-posterior length. Patients younger than 2 months also had elongated posterior cranial bases. At 2 to 3 months of age, the cranial base widens in the anterior portion of the middle cranial fossa with an increased ipsilateral pterion to sella distance. The most delayed change observed was the increase in contralateral orbital rim angle at 7 to 12 months of age compared to normal. CONCLUSION: After suture fusion, sphenoid wing changes are among the earliest restructural malformations to take place. This suggests that the cascade of dysmorphology in UCS originates in the cranial vault, then progresses to the skull base, and lastly to the facial structures. Ipsilateral orbital changes are early facial changes in UCS that begin before 2 months of age. This is then followed by changes in the contralateral face later in development.

Early Fetal Development of the Otic and Pterygopalatine Ganglia with Special Reference to the Topographical Relationship with the Developing Sphenoid Bone.

The otic and pterygopalatine ganglia are located close to the greater wing (alisphenoid) of the sphenoid bone and many researchers have noted nerves connecting these ganglia in human embryos. The greater wing (alisphenoid) arises from the cartilaginous ala temporalis independently of the lesser wing, but no topographical changes between this cartilage and nerve elements have been demonstrated. We examined histological sections of 20 human embryos and fetuses from 6 to 15 weeks of development (WD). At 6 WD, the ala temporalis, the alar process and ganglia were all identified as a single, undifferentiated cell mass. Subsequently, the two ganglia became identifiable, but were continuous on the superior side of the initial ala temporalis. The temporal, superior spine of the ala temporalis was surrounded by the part that connected the ganglia. At 7 WD, the superior spine of the ala temporalis was reduced in size and the continuity of these ganglia was lost. At this point, a secondarily-formed communicating branch between the ganglia, the nervus sphenoidalis was first identifiable. At 9 WD, the ala temporalis and the alar process had clearly become cartilages, and the anterior end of the otic ganglion was separated from the ala temporalis. The nervus sphenoidalis became longer. At 15 WD, the otic and pterygopalatine ganglia were clear separated from the alisphenoid, which consisted of the cartilaginous ala temporalis and membranous bone. Consequently, the separation between the otic and pterygopalatine ganglia seemed to be due to the developing ala temporalis. Anat Rec, 2018. © 2018 Wiley Periodicals, Inc.

Developmental characteristics of secondary cartilage in the mandibular condyle and sphenoid bone in mice.

OBJECTIVE: Secondary cartilage develops from osteochondral progenitor cells. Hypertrophic chondrocytes in secondary cartilage increase within a very short time and then ossify rapidly. In the present study, we investigated the sequential development process of osteochondral progenitor cells, and the morphology and size of hypertrophic chondrocytes in secondary cartilage. DESIGN: ICR mice at embryonic days (E) 14.5-17.5 were used. The mandibular condyle and the medial pterygoid process of the sphenoid bone were observed as secondary cartilage, and the cranial base and the lateral pterygoid process of the sphenoid bone, which is primary cartilage, were observed as a control. Thin sections were subjected to immunostaining and alkaline phosphatase (ALP) staining. Using a confocal laser microscope, 3D stereoscopic reconstruction of hypertrophic cells was performed. To evaluate the size of hypertrophic chondrocytes objectively, the cell size was measured in each cartilage. RESULTS: Hypertrophic chondrocytes of secondary cartilage first expressed type X collagen (Col X) at E15.5. SRY-box 9 (Sox 9) and ALP were co-expressed in the fibroblastic/polymorphic tissue layer of secondary cartilage. This layer was very thick at E15.5, and then rapidly became thin. Hypertrophic cells in secondary cartilage were markedly smaller than those in primary cartilage. CONCLUSIONS: The small hypertrophic cells present in secondary cartilage may have been a characteristic acquired in order for the cartilage to smoothly promote a marked increase in hypertrophic cells and rapid calcification.

Quantification of spheno-occipital synchondrosis fusion in a contemporary Malaysian population.

Timing of fusion of the spheno-occipital synchondrosis (SOS) is correlated with age. Previous research, however, has demonstrated variation in the timing of closure among different global populations. The present study aims to quantify the timing of SOS fusion in Malaysian individuals as visualised in multi-detector computed tomography (CT) scans and to thereafter formulate age estimation models based on fusion status. Anonymised cranial CT scans of 336 males and 164 females, aged 5-25 years, were acquired from the National Institute of Forensic Medicine, Hospital Kuala Lumpur and Department of Diagnostic Imaging, Hospital Sultanah Aminah. The scans were received in DICOM format and reconstructed into three-dimensional images using OsiriX. The SOS is scored as open, fusing endocranially, fusing ectocranially or completely fused. Statistical analyses are performed using IBM SPSS Statistics version 24. Transition analysis (Nphases2) is then utilised to calculate age ranges for each stage. To assess the reliability of an observation, intra- and inter-observer agreement is quantified using Fleiss Kappa and was found to be excellent (κ=0.785-0.907 and 0.812). The mean (SD) age for complete fusion is 20.84 (2.84) years in males and 19.78 (3.35) years in females. Transition ages between Stages 0 and 1, 1 and 2, and 2 and 3 in males are 12.52, 13.98 and 15.52 years, respectively (SD 1.37); in females, the corresponding data are 10.47, 12.26 and 13.80 years (SD 1.72). Complete fusion of the SOS was observed in all individuals above the age of 18 years. SOS fusion status provides upper and lower age boundaries for forensic age estimation in the Malaysian sample.

Age determination by spheno-occipital synchondrosis fusion in Central Indian population.

The spheno occipital suture synchondrosis is a vital contributor to adolescent and adult age estimation in that it can provide an upper or lower age bound depending on its state of fusion. The present study evaluates the utility of the spheno-occipital suture fusion in age estimation of the Central Indian population. The sample includes 198 (117 males and 81 females) cadavers aged between 8 to 26 years. Grading was done using Mitra-Akhlaghi Scale as - Open, Semi closed and Closed. Our study demonstrates that a significant linear correlation exists between the age of an individual and spheno-occipital suture closure for both the sexes and observation of the degree of fusion of this single suture allows the prediction of age in mature individuals.

Growth and Development at the Sphenoethmoidal Junction in Perinatal Primates.

Integration of the sphenoid and ethmoid bones during early postnatal development is poorly described in the literature. A uniquely prolonged patency of sphenoethmoidal synchondrosis or prespheno-septal synchondrosis (PSept) has been attributed to humans. However, the sphenoethmoidal junction has not been studied using a comparative primate sample. Here, we examined development of the sphenoethmoidal interface using ontogenetic samples of Old and New World monkeys, strepsirrhine primates (lemurs and lorises), and a comparative sample of other mammals. Specimens ranging from late fetal to 1 month postnatal age were studied using histology, immunohistochemistry, and micro-computed tomography methods. Our results demonstrate that humans are not unique in anterior cranial base growth at PSept, as it is patent in all newborn primates. We found two distinctions within our sample. First, nearly all primates exhibit an earlier breakdown of the nasal capsule cartilage that abuts the orbitosphenoid when compared to nonprimates. This may facilitate earlier postnatal integration of the basicranium and midface and may enhance morphological plasticity in the region. Second, the PSept exhibits a basic dichotomy between strepsirrhines and monkeys. In strepsirrhines, the PSept has proliferating chondrocytes that are primarily oriented in a longitudinal plane, as in other mammals. In contrast, monkeys have a convex anterior end of the presphenoid with a radial boundary of cartilaginous growth at PSept. Our findings suggest that the PSept acts as a "pacemaker" of longitudinal facial growth in mammals with relatively long snouts, but may also contribute to facial height and produce a relatively taller midface in anthropoid primates. Anat Rec, 300:2115-2137, 2017. © 2017 Wiley Periodicals, Inc.

Spheno-occipital synchondrosis: Examining the degree of fusion in a South African Black skeletal sample.

Estimating age-at-death is one of the many biological demographics that a forensic anthropologist needs to determine for a set of unknown skeletal remains. A useful skeletal developmental marker, which can aid in estimating age in sub-adult remains, is the state of fusion of the spheno-occipital synchondrosis. This study aimed to determine the repeatability of a three-stage scoring method and the age at which the spheno-occipital synchondrosis begins and completes fusion in a Black South African sample. A total of 147 male and female skeletal individuals aged between 12-30 years from the Raymond A. Dart Collection of Human Skeletons were included. The mean age-at-death noted for the commencement of fusion at the spheno-occipital synchondrosis was 16.2 (±2.9) years in females and 16.7 (±1.2) years in males, with females displaying signs of fusion taking place approximately three years before their male counterparts. Complete fusion of this skeletal developmental marker was observed in 100% of the sample over the age of 20 years, regardless of sex. A Kappa value of 1.0 was achieved when the repeatability and reproducibility of the three-stage scoring method was tested. Complete fusion of this synchondrosis occurred slightly later in this South African sample than that noted in previous literature. This finding may be attributed to the differences in health and socio-economic statuses between these different population groups, reiterating the need for population-specific data to be developed. The importance of noting the state of fusion of the spheno-occipital synchondrosis during the examination of relevant forensic cases may aid in the formation of a narrower age-at-death range for sub-adult and young adult skeletal remains.

Postnatal Development of the Spheno-occipital Synchondrosis: A Histological Analysis.

The spheno-occipital synchondrosis (SOS) in cranial base is an important growth center for the craniofacial skeleton, and also is a guide rail for development of the maxilla, midface, and mandible. Previous studies showed that SOS may be a treatment target for youngsters with midfacial hypoplasia and small cranial vault secondary to craniosynostosis. However, most of studies about the SOS are based on imaging data. In this study, we try to explore the characteristics of postnatal development of the mouse SOS based on histological analysis. Our findings showed that the width of the SOS in mice were gradually decreased from newborn mice to adult mice, and the SOS cartilage was gradually became small, then almost completely ossificated in adult mice. The resting and proliferative layers in SOS cartilage were gradually decreased, and almost only hypertrophic chondrocytes while no resting and proliferative layer chondrocytes in adult mice. The proliferative ability of SOS chondrocytes also gradually decreased. These findings will be of benefit for the further clinical treatment for patients with midfacial hypoplasia or small cranial vault secondary to craniosynostosis. Further evidence-based research about the clinical implication is necessary in future.

Age estimation by an analysis of spheno-occipital synchondrosis using cone-beam computed tomography.

The spheno-occipital synchondrosis has a relatively late ossification in comparison with other cranial base synchondroses, which makes it a point of interest for forensic age determination studies. The purpose of the present study was to evaluate the reliability of spheno-occipital synchondrosis development in age determination in a Turkish population and to evaluate the reproducibility and reliability of cone beam computed tomography (CBCT) in an evaluation of the fusion stages of spheno-occipital synchondrosis. CBCT mid-sagittal images of 238 (90 males and 148 females) patients between the ages of 7 and 25, with a mean age of 15.45±0.26 and 16.43±0.37, respectively, were examined by three Oral and Maxillofacial Radiologists who evaluated the degree of synchondrosis fusion using a four-stage system. A reevaluation of 50 cases was conducted for intraobserver assessment. Multiple statistical analyses were used to assess the correlation between age and the fusion stage, to compare gender and age according to stages, and to evaluate the inter- and intraobserver agreement. The mean ages for complete fusion (Stage 3) were 18 and 20 for females and males, respectively. The interobserver agreement ranged between substantial and perfect, while the intraobserver agreement was substantial for all three observers. Based on these results, CBCT, when available, might be the method of choice for age estimation using the spheno-occipital synchondrosis fusion stages. Evaluating spheno-occipital synchondrosis has a value for age estimation around the age of 18 years, which affects the legal decisions in Turkey.

Cephalometry in adults and children with neurofibromatosis type 1: Implications for the pathogenesis of sphenoid wing dysplasia and the "NF1 facies".

BACKGROUND: Neurofibromatosis type 1 (NF1) is a common, autosomal dominant tumor-predisposition disorder that arises secondary to mutations in the tumor suppressor gene NF1. Cephalometry is an inexpensive, readily available and non-invasive technique that is under-utilized in studying the NF1 craniofacial phenotype. An analysis of NF1 cephalometry was first published by Heervä et al. in 2011. We expand here on that first investigation with a larger cohort of adult and pediatric patients affected with NF1 and sought objective insight into the NF1 facies, said to feature hypertelorism and a broad nasal base, from cephalometric analysis. METHODS: We obtained cephalograms from 101 patients with NF1 (78 adults and 23 children) from two NF1 protocols at the National Institutes of Health. Each subject had an age-, gender- and ethnicity-matched control. We used Dolphin software to make the cephalometric measurements. We assessed the normality of differences between paired samples using the Shapiro-Wilk test and evaluated the significance of mean differences using paired t-tests and adjusted for multiple testing. We explored the relationship between the cephalometric measurements and height, head circumference and interpupillary distance. RESULTS: In this dataset of American whites with NF1, we confirmed in a modestly larger sample many of the findings found by Heerva et al. in an NF1 Finnish cohort. We found a shorter maxilla, mandible, cranial base, (especially anteriorly, p = 0.0001) and diminished facial height in adults, but not children, with NF1. Only one adult exhibited hypertelorism. CONCLUSIONS: The cephalometric differences in adults arise in part from cranial base shortening and thus result in a shorter face, mid-face hypoplasia, reduced facial projection, smaller jaw, and increased braincase globularity. In addition, we suggest that NF1 sphenoid bone shortening, a common event, is consistent with an intrinsic NF1 bone cell defect, which renders the bone more vulnerable to a random "second hit" in NF1, leading to sphenoid wing dysplasia, a rare event.

The timing of spheno-occipital fusion in hominoids.

The degree of spheno-occipital fusion has been used to assign a relative age to dentally mature hominoid cranial specimens. However, a recent study of captive individuals (Poe: Am J Phys Anthropol 144 (2011) 162­165) concluded that fusion of the spheno-occipital suture in great ape taxa is of little utility for aging dentally mature individuals. In this contribution, I use dentally mature samples of extant hominoid taxa (Homo sapiens, Pan troglodytes schweinfurthii, Gorilla gorilla gorilla, Pongo pygmaeus pygmaeus and Hylobates lar) to investigate a) the temporal relationship between spheno-occipital fusion and dental maturity, b) whether there is an association between the degree of spheno-occipital fusion and relative age, c) whether there are differences in relative timing of spheno-occipital fusion between taxa, and d) whether there are sex differences in the relative timing of spheno-occipital fusion. Results suggest that a) a substantial proportion of dentally mature wild-shot chimpanzee, gorilla and orang-utans have unfused or partially fused spheno-occipital synchondoses, b) there is an association between the degree of spheno-occipital fusion and age, c) there are interspecific differences in the timing of spheno-occipital fusion, and d) there are significant sex differences in spheno-occipital fusion in chimpanzees, orang-utans and gibbons. Thus, contrary to previous work, degree of spheno-occipital fusion is a potentially useful indicator of relative maturity, especially in great ape taxa.

Ontogeny of the spheno-occipital synchondrosis in a modern Queensland, Australian population using computed tomography.

Due to disparity regarding the age at which skeletal maturation of the spheno-occipital synchondrosis occurs in forensic and biological literature, this study provides recalibrated multislice computed tomography (MSCT) age standards for the Australian (Queensland) population, using a Bayesian statistical approach. The sample comprises retrospective cranial/cervical MSCT scans obtained from 448 males and 416 females aged birth to 20 years from the Skeletal Biology and Forensic Anthropology Research Osteological Database. Fusion status of the synchondrosis was scored using a modified six-stage scoring tier on an MSCT platform, with negligible observer error (κ = 0.911 ± 0.04, intraclass correlation coefficient = 0.994). Bayesian transition analysis indicates that females are most likely to transition to complete fusion at 13.1 years and males at 15.6 years. Posterior densities were derived for each morphological stage, with complete fusion of the synchondrosis attained in all Queensland males over 16.3 years of age and females aged 13.8 years and older. The results demonstrate significant sexual dimorphism in synchondrosis fusion and are suggestive of intrapopulation variation between major geographic regions in Australia. This study contributes to the growing repository of contemporary anthropological standards calibrated for the Queensland milieu to improve the efficacy of the coronial process for medicolegal death investigation. As a stand-alone age indicator, the basicranial synchondrosis may be consulted as an exclusion criterion when determining the age of majority that constitutes 17 years in Queensland forensic practice.

SOX3 deletion in mouse and human is associated with persistence of the craniopharyngeal canal.

CONTEXT: SOX3 is an early developmental transcription factor involved in pituitary development. In humans, over- and underdosage of SOX3 is associated with X-linked hypopituitarism with variable phenotypes ranging from isolated GH deficiency (GHD) to panhypopituitarism, with or without mental retardation and, in most cases, with reported pituitary imaging, an ectopic/undescended posterior pituitary. PATIENT: We present a young patient with hemophilia B and developmental delay who had a 2.31-Mb deletion on Xq27 including SOX3, F9, and eight other contiguous genes. He developed GH and gonadotropin deficiency, whilst his thyroid function was in the low normal range. Magnetic resonance imaging revealed a eutopic posterior pituitary and the unusual finding of a persistent craniopharyngeal canal that has not previously been described in patients with congenital hypopituitarism. OBJECTIVE AND METHODS: To establish whether loss of SOX3 can account for the human phenotype, we examined in detail the hypothalamo-pituitary region of neonatal Sox3 null mice. RESULTS: Consistent with the patient's phenotype, Sox3 null mice exhibit a ventral extension of the anterior pituitary that penetrates, and generates a mass beneath, the sphenoid bone. This suggests that the defect results from abnormal induction of Rathke's pouch, leading to a persistent connection between Rathke's pouch and the oral ectoderm. CONCLUSIONS: Our observations expand the spectrum of phenotypes observed in association with altered SOX3 dosage and may affect the approach to genetic screening. Screening for SOX3 should be advised not only for hypopituitary patients with an ectopic posterior pituitary, but also for those with a structurally normal pituitary and additional findings, including clefts and a persistent craniopharyngeal canal, with or without mental retardation.