Nasal septal and craniofacial form in European- and African-derived populations

As a component of the chondrocranium, the nasal septum influences the anteroposterior dimensions of the facial skeleton. The role of the septum as a facial growth center, however, has been studied primarily in long-snouted mammals, and its precise influence on human facial growth is not as well understood. Whereas the nasal septum may be important in the anterior growth of the human facial skeleton early in ontogeny, the high incidence of nasal septal deviation in humans suggests the septum's influence on human facial length is limited to the early phases of facial growth. Nevertheless, the nasal septum follows a growth trajectory similar to the facial skeleton and, as such, its prolonged period of growth may influence other aspects of facial development. Using computed tomography scans of living human subjects (n = 70), the goal of the present study is to assess the morphological relationship between the nasal septum and facial skeleton in European- and African-derived populations, which have been shown to exhibit early developmental differences in the nasal septal-premaxillary complex. First we assessed whether there is population variation in the size of the nasal septum in European- and African-derived samples. This included an evaluation of septal deviation and the spatial constraints that influence variation in this condition. Next, we assessed the relationship between nasal septal size and craniofacial shape using multivariate regression techniques. Our results indicate that there is significant population variation in septal size and magnitude of septal deviation, both of which are greater in the European-derived sample. While septal deviation suggests a disjunction between the nasal septum and other components of the facial skeleton, we nevertheless found a significant relationship between the size of the nasal septum and craniofacial shape, which appears to largely be a response to the need to accommodate variation in nasal septal size.     

Three-dimensional form and function of the nasal cavity and nasopharynx in humans and chimpanzees

The facial differences between recent Pan troglodytes and Homo sapiens can be used as a proxy for the reduction of facial prognathism that happened during evolutionary transition between Australopithecines and early Homo. The projecting nasal morphology of Homo has been considered both a passive consequence of anatomical reorganization related to brain and integrated craniofacial evolution as well as an adaptation related to air-conditioning during physiological and behavioral shifts in human evolution. Yet, previous research suggested impaired air-conditioning in Homo challenging respiratory adaptations based on computational fluid dynamics (CFD) and airflow simulations. Here we improved CFD model at the inflow region and also carried out three-dimensional (3D) geometric morphometrics to address the hypothesis of impaired air-conditioning in humans and species differences in airway shape. With the new CFD model we simulated pressure, velocity, and temperature changes in airflow of six adult humans and six chimpanzees and analyzed 164 semi-landmarks of 10 humans and 10 chimpanzees for 3D size and shape comparisons. Our finding shows significantly different internal 3D nasal airways. Also, species means of pressure, velocity, and temperature differed statistically significantly. However, form-related differences in temperature exchanges seem subtle and may question adaptive disadvantages. We rather support a hypothesis of craniofacial changes in the Australopithecus-Homo transition that are related to brain evolution and craniofacial integration with facial and nasal modifications that contribute to maintain respiratory adaptations related to air conditioning.     

Ellis Van Creveld2 is Required for Postnatal Craniofacial Bone Development

Ellis‐van Creveld (EvC) syndrome is a genetic disorder with mutations in either EVC or EVC2 gene. Previous case studies reported that EvC patients underwent orthodontic treatment, suggesting the presence of craniofacial bone phenotypes. To investigate whether a mutation in EVC2 gene causes a craniofacial bone phenotype, Evc2 knockout (KO) mice were generated and cephalometric analysis was performed. The heads of wild type (WT), heterozygous (Het) and homozygous Evc2 KO mice (1‐, 3‐, and 6‐week‐old) were prepared and cephalometric analysis based on the selected reference points on lateral X‐ray radiographs was performed. The linear and angular bone measurements were then calculated, compared between WT, Het and KO and statistically analyzed at each time point. Our data showed that length of craniofacial bones in KO was significantly lowered by ～20% to that of WT and Het, the growth of certain bones, including nasal bone, palatal length, and premaxilla was more affected in KO, and the reduction in these bone length was more significantly enhanced at later postnatal time points (3 and 6 weeks) than early time point (1 week). Furthermore, bone‐to‐bone relationship to cranial base and cranial vault in KO was remarkably changed, i.e. cranial vault and nasal bone were depressed and premaxilla and mandible were developed in a more ventral direction. Our study was the first to show the cause‐effect relationship between Evc2 deficiency and craniofacial defects in EvC syndrome, demonstrating that Evc2 is required for craniofacial bone development and its deficiency leads to specific facial bone growth defect. Anat Rec, 299:1110–1120, 2016. © 2016 Wiley Periodicals, Inc.     

Variation in the Developmental and Morphological Interaction Between the Nasal Septum and Facial Skeleton

While the nasal septum exerts a morphogenetic influence on the facial skeleton, there is evidence that this relationship is highly variable. To better appreciate the precise role of the septum, it is important understand the variable interaction between the septum and surrounding skeleton during ontogeny. Here we analyzed nasal septal and facial skeletal postnatal phenotypic variation using cross‐sectional samples of C3H/HeJ and C57BL/6J mice. Initial observations indicated between‐strain variation in the magnitude of septal deviation, suggesting differences in septal and facial skeletal interaction. We examined whether variation in septal deviation is due to ontogenetic differences in septal size, or whether variation in facial skeletal growth imposes spatial constraints on the septum. Using microCT we quantified septal size and deviation, and collected coordinate landmark data, which we analyzed using geometric morphometrics. C3H/HeJ mice were significantly more deviated than C57BL/6J during development. We found no differences in septal size between the two strains. However, while both strains exhibited an ontogenetic increase in snout length, C3H/HeJ mice exhibited a non‐allometric reduction in nasal bone length. This appears to be influenced by between‐strain variation in the spatial relationship between the nasal septum and nasofrontal suture. Unlike C57BL/6J mice, the C3H/HeJ nasal septum is positioned anterior to the nasofrontal suture potentially limiting an early direct influence of septal growth (e.g., through interstitial expansion) on sutural growth. Ultimately, our results underscore that while the septum is a key facial growth center, its precise influence on facial growth varies even in narrow morphological and taxonomic ranges. Anat Rec, 299:730–740, 2016. © 2016 Wiley Periodicals, Inc.     

Sutural growth restriction and modern human facial evolution: an experimental study in a pig model

Facial size reduction and facial retraction are key features that distinguish modern humans from archaic Homo. In order to more fully understand the emergence of modern human craniofacial form, it is necessary to understand the underlying evolutionary basis for these defining characteristics. Although it is well established that the cranial base exerts considerable influence on the evolutionary and ontogenetic development of facial form, less emphasis has been placed on developmental factors intrinsic to the facial skeleton proper. The present analysis was designed to assess anteroposterior facial reduction in a pig model and to examine the potential role that this dynamic has played in the evolution of modern human facial form. Ten female sibship cohorts, each consisting of three individuals, were allocated to one of three groups. In the experimental group (n = 10), microplates were affixed bilaterally across the zygomaticomaxillary and frontonasomaxillary sutures at 2 months of age. The sham group (n = 10) received only screw implantation and the controls (n = 10) underwent no surgery. Following 4 months of post‐surgical growth, we assessed variation in facial form using linear measurements and principal components analysis of Procrustes scaled landmarks. There were no differences between the control and sham groups; however, the experimental group exhibited a highly significant reduction in facial projection and overall size. These changes were associated with significant differences in the infraorbital region of the experimental group including the presence of an infraorbital depression and an inferiorly and coronally oriented infraorbital plane in contrast to a flat, superiorly and sagittally infraorbital plane in the control and sham groups. These altered configurations are markedly similar to important additional facial features that differentiate modern humans from archaic Homo, and suggest that facial length restriction via rigid plate fixation is a potentially useful model to assess the developmental factors that underlie changing patterns in craniofacial form associated with the emergence of modern humans.     

Morphological interaction between the nasal septum and nasofacial skeleton during human ontogeny

The nasal septal cartilage is thought to be a key growth center that contributes to nasofacial skeletal development. Despite the developmental influence of the nasal septum however, humans often exhibit a high frequency of septal deviation suggesting discordance in the growth between the septum and surrounding nasofacial skeleton. While there are numerous etiological factors that contribute to septal deviation, the surrounding nasofacial skeleton may also act to constrain the septum, resulting in altered patterns of growth. That is, while the nasal septum has a direct morphogenetic influence on aspects of the nasofacial skeleton, other nasofacial skeletal components may restrict septal growth resulting in deviation. Detailing the developmental relationship between these structures is important not only for understanding the causal determinants of nasal septal deviation, but also for developing a broader understanding of the complex interaction between the facial skeleton and chondrocranium. We selected 66 non‐syndromic subjects from the University of Minnesota Orthodontic Clinic who ranged from 7 to 18 years in age and had an existing pretreatment cone‐beam computed tomography (CBCT) scan. Using CBCT data, we examined the developmental relationship between nasal septal deviation and the surrounding nasofacial skeleton. We measured septal deviation as a percentage of septal volume relative to a modeled non‐deviated septum. We then collected a series of coordinate landmark data in the region immediately surrounding the nasal septum in the midsagittal plane representing the nasofacial skeleton. First, we examined ontogenetic changes in the magnitude of nasal septal deviation relative to chronological age and nasofacial size. Next, using Procrustes‐based geometric morphometric techniques, we assessed the morphological relationship between nasal septal deviation and nasofacial skeletal shape. Our results indicate that variation in the magnitude of nasal septal deviation was established in our earliest age group and maintained throughout ontogeny. Moreover, nasal septal deviation was correlated with non‐allometric variation in nasofacial shape restricted to the region of the anterior sphenoid body. Ultimately, our results suggest that early developmental variation in midline basicranial components may act to alter or constrain patterns of nasal septal growth.     

Nasal Septal Deviation and Facial Skeletal Asymmetries

During ontogeny, the nasal septum exerts a morphogenetic influence on the surrounding facial skeleton. While the influence of the septum is well established in long snouted animal models, its role in human facial growth is less clear. If the septum is a facial growth center in humans, we would predict that deviated septal growth would be associated with facial skeletal asymmetries. Using computed tomographic (CT) scans of n = 55 adult subjects, the purpose of this study was to test whether there is a correlation between septal deviation and facial asymmetries using three‐dimensional (3D) geometric morphometric techniques. We calculated deviation as a percentage of septal volume relative to the volume of a modeled non‐deviated septum. We then recorded skeletal landmarks representing the nasal, palatal, and lateral facial regions. Landmark data were superimposed using Procrustes analysis. First, we examined the correlation between nasal septal deviation and the overall magnitude of asymmetry. Next, we assessed whether there was a relationship between nasal septal deviation and more localized aspects of asymmetry using multivariate regression analysis. Our results indicate that while there was no correlation between septal deviation and the overall magnitude of asymmetry, septal deviation was associated with asymmetry primarily in the nasal floor and the palatal region. Septal deviation was unassociated with asymmetries in the lateral facial skeleton. Though we did not test the causal relationship between nasal septal deviation and facial asymmetry, our results suggest that the nasal septum may have an influence on patterns of adult facial form. Anat Rec, 299:295–306, 2016. © 2016 Wiley Periodicals, Inc.     

Clinical significance of the sphenoidal process of the cartilaginous nasal septum: A preliminary morphological evaluation

The bony septum ossifies from cranial to caudal and from ventral to dorsal, thereby forming the perpendicular plate of ethmoid bone and vomer. A small strip of cartilage from the cartilaginous septum remains between these parts, the so‐called sphenoidal process of the cartilaginous septum. This sphenoidal process is usually seen at the top of a deviated nasal septum during septoplasty. This study evaluated the clinical significance of the sphenoidal process of the cartilaginous septum as a cause of nasal septal deviation. We studied 37 patients with septal deviation who underwent septoplasty. The complex consisting of the sphenoidal process of the cartilaginous septum, perpendicular plate of the ethmoid bone (PPE), and vomer was removed at surgery. The sphenoidal process was measured and the surgical specimen were evaluated histologically and compared to controls. The mean length of the sphenoidal process in patients with a deviated nasal septum was 26.05 ± 5.32 mm versus 11.95 ± 2.38 mm in controls. The sphenoidal process was significantly longer in the patients with a deviated nasal septum (P < 0.05). The sphenoidal process of the cartilaginous septum was connected to the PPE and vomer in the patients with a deviated nasal septum and differed histologically from that of the controls. The sphenoidal process of the cartilaginous septum was long and prominent in the patients with septal deviation, implying that delayed nasal septal ossification may be one cause of nasal septal deviation. Clin. Anat. 23:265–269, 2010. © 2010 Wiley‐Liss, Inc.     

Misclassification risk of patients with bilateral cleft lip and palate and manifestations of median facial dysplasia: A new variant of del(22q11.2) syndrome?

The generic term median facial dysplasia (MFD) describes a subgroup of patients with cleft lip and palate exhibiting characteristic craniofacial defects: (1) short prolabium, (2) absence of frenulum labii, (3) hypoplasia of premaxilla, (4) absent upper central and lateral incisors of the cleft side, and (5) deficient septal cartilage and nasal spine. Gross brain malformations are usually absent in MFD. The same craniofacial malformations are also described in patients with holoprosencephaly sequence (HPE‐S). We report on two male patients with bilateral cleft lip and palate showing the facial findings of MFD or HPE‐S. Additional congenital malformations were anal atresia in one patient and severe cardiac defect in the other. In both, HPE was excluded by brain imaging, although uncommon brain anomalies were detected consisting of multiple white‐matter lesions in the one patient and unusual enlargement and tortuosity of intracerebral blood vessels in both patients. In addition to facial anomalies, the patients also had psychiatric problems typically seen in velo‐cardio‐facial syndrome (VCFS). Fluorescence in situ hybridization (FISH) analysis confirmed a 22q11.2 microdeletion in both. © 2001 Wiley‐Liss, Inc.     

Effect of septal deviation on nasomaxillary shape: A geometric morphometric study

Nasal cavities in their primitive stage communicate with the oral cavity until the 8th week of intrauterine life where the posterior palate initiates its development. Hence, starting from the initial growth phases, a significant connection lays between the nasal structures and the maxillary bone and witnessing key functional roles, among which the respiration. Proper nasal breathing has been proven to be a crucial factor for the maturity of the craniofacial complex, and obstruction of the respiratory airway due to nasal septum deviation can generate clinically significant reduction of the nasal airflow. This situation will imply irreversible repercussions that hinders the harmonious development of the craniofacial complex. In order to understand such potential impacts of septal deviation, our first objective was to materialize the relation between septum deviation, and both nasal cavity and maxillary structures. For the second objective, we used Procrustes analysis to assess the shape variation of these two anatomical regions, the bivariate plots of Principal Components to evaluate their shape space, and a two-block Partial Least Square (PLS) to explore their covariation. We analysed, in this cross-sectional study, 62 posteroanterior cephalometric radiographs of adult subjects from both sexes (23 males, 39 females; mean age 25.3 years) collected from the database of the Department of Orthodontics at Lebanese University. Landmarks were plotted and variables were calculated and divided into nasal septum, nasal cavity and maxillary ones. The sample was further divided into two groups based on septal deviation severity (a septal deviation is considered minor if <6). The results suggested that nasal septum deviation was correlated to reduced nasal cavity area and a reduced maxillary area. Moreover, the comparison of the two groups concluded that the difference between all variables was statistically significant with higher scores in the minor septal deviation group. These findings were corroborated with the shape analysis where the mean centroid size of nasal cavity and that of the maxilla in the group of reduced septal deviation were significantly greater than those of the group with increased angle of deviation. Results of PLS analysis concluded to a strong covariation between nasal septum and nasomaxillary complex. These conclusions support the early septoplasty in growing patients as a solution to redirect the normal course of growth and re-establish a good function of the nasomaxillary complex.     

Nasal airway and septal variation in unilateral and bilateral cleft lip and palate

Cleft lip and palate (CLP) affects the dentoalveolar and nasolabial facial regions. Internal and external nasal dysmorphology may persist in individuals born with CLP despite surgical interventions. 7–18 year old individuals born with unilateral and bilateral CLP (n = 50) were retrospectively assessed using cone beam computed tomography. Anterior, middle, and posterior nasal airway volumes were measured on each facial side. Septal deviation was measured at the anterior and posterior nasal spine, and the midpoint between these two locations. Data were evaluated using principal components analysis (PCA), multivariate analysis of variance (MANOVA), and post‐hoc ANOVA tests. PCA results show partial separation in high dimensional space along PC1 (48.5% variance) based on age groups and partial separation along PC2 (29.8% variance) based on CLP type and septal deviation patterns. MANOVA results indicate that age (P = 0.007) and CLP type (P ≤ 0.001) significantly affect nasal airway volume and septal deviation. ANOVA results indicate that anterior nasal volume is significantly affected by age (P ≤ 0.001), whereas septal deviation patterns are significantly affected by CLP type (P ≤ 0.001). Age and CLP type affect nasal airway volume and septal deviation patterns. Nasal airway volumes tend to be reduced on the clefted sides of the face relative to non‐clefted sides of the face. Nasal airway volumes tend to strongly increase with age, whereas septal deviation values tend to increase only slightly with age. These results suggest that functional nasal breathing may be impaired in individuals born with the unilateral and bilateral CLP deformity. Clin. Anat. 27:999–1008, 2014. © 2014 Wiley Periodicals, Inc.     

3D facial morphometry in Italian patients affected by Aicardi syndrome

Aicardi syndrome (AIC) is a rare congenital neurodevelopmental disorder of unknown etiology, that affects almost exclusively females, originally characterized by corpus callosum agenesis, chorioretinal lacunae, and infantile spasms. The current diagnostic criteria also include qualitative facial features (prominent premaxilla, upturned nasal tip, decreased nasal bridge angle, sparse lateral eyebrows, and microphthalmia) that still need quantification. A three‐dimensional (3D) photogrammetric assessment of 11 Italian females, age 7–32 years, who satisfied AIC criteria, was performed. Linear distances and angles were computed from soft‐tissue facial landmarks coordinates. The z‐score values were calculated using data of 850 healthy reference females matched for age and compared by Mann–Whitney test (p < .01). Patients showed a shorter philtrum and right side orbital height (mean z‐scores: ?1.7, ?0.9), shorter superior, middle, and inferior facial depths (mean z‐scores: ?1.3, ?2.2, ?2.3), and a smaller length of mandibular ramus (mean z‐score: ?2.1); conversely, they showed larger nasal and lower facial widths, and lower facial convexity (mean z‐scores: 1.7, 1.4, 2.4). The inclinations of the orbit versus the true horizontal were increased bilaterally (mean z‐scores: 1.8, 1.1). Some common facial abnormalities were quantified in AIC patients using a noninvasive instrument. They may help clinicians in performing a definite AIC diagnosis in atypical or doubt cases.     

Bilateral cleft lip and palate: A morphometric analysis of facial skeletal form using cone beam computed tomography

Bilateral cleft lip and palate (BCLP) is caused by a lack of merging of maxillary and nasal facial prominences during development and morphogenesis. BCLP is associated with congenital defects of the oronasal facial region that can impair ingestion, mastication, speech, and dentofacial development. Using cone beam computed tomography (CBCT) images, 7‐ to 18‐year old individuals born with BCLP (n = 15) and age‐ and sex‐matched controls (n = 15) were retrospectively assessed. Coordinate values of three‐dimensional facial skeletal anatomical landmarks (n = 32) were measured from each CBCT image. Data were evaluated using principal coordinates analysis (PCOORD) and Euclidean Distance Matrix Analysis (EDMA). PCOORD axes 1–3 explain approximately 45% of the morphological variation between samples, and specific patterns of morphological differences were associated with each axis. Approximately, 30% of facial skeletal measures significantly differ by confidence interval testing (α = 0.10) between samples. While significant form differences occur across the facial skeleton, strong patterns of differences are localized to the lateral and superioinferior aspects of the nasal aperture. In conclusion, the BCLP deformity significantly alters facial skeletal morphology of the midface and oronasal regions of the face, but morphological differences were also found in the upper facial skeleton and to a lesser extent, the lower facial skeleton. This pattern of strong differences in the oronasal region of the facial skeleton combined with differences across the rest of the facial complex underscores the idea that bones of the craniofacial skeleton are integrated. Clin. Anat. 28:584–592, 2015. © 2015 Wiley Periodicals, Inc.     

Misclassification risk of patients with bilateral cleft lip and palate and manifestations of median facial dysplasia: A new variant of del(22q11.2) syndrome?

The generic term median facial dysplasia (MFD) describes a subgroup of patients with cleft lip and palate exhibiting characteristic craniofacial defects: (1) short prolabium, (2) absence of frenulum labii, (3) hypoplasia of premaxilla, (4) absent upper central and lateral incisors of the cleft side, and (5) deficient septal cartilage and nasal spine. Gross brain malformations are usually absent in MFD. The same craniofacial malformations are also described in patients with holoprosencephaly sequence (HPE-S). We report on two male patients with bilateral cleft lip and palate showing the facial findings of MFD or HPE-S. Additional congenital malformations were anal atresia in one patient and severe cardiac defect in the other. In both, HPE was excluded by brain imaging, although uncommon brain anomalies were detected consisting of multiple white-matter lesions in the one patient and unusual enlargement and tortuosity of intracerebral blood vessels in both patients. In addition to facial anomalies, the patients also had psychiatric problems typically seen in velo-cardio-facial syndrome (VCFS). Fluorescence in situ hybridization (FISH) analysis confirmed a 22q11.2 microdeletion in both.     

Endochondral ossification of the mouse nasal septum

Endochondral ossification at the caudal junctions of the cartilaginous nasal septum, in combination with interstitial expansion of the septum, is thought to displace the facial skeleton away from the neurocranium. However, the rate of endochondral ossification has not been measured or related to rates of septal enlargement. This study examined endochondral ossification at these junctions in mice from postnatal days 0-15, in the context of known cranial growth sites, the synchondroses. BrdU labeling was used to compare cell division at the septoethmoidal and septopresphenoidal junctions with cell division at the synchondroses, and double-fluorochrome labeling was used to measure mineralization rate. The results showed that the septoethmoidal and septopresphenoidal junctions develop the characteristic morphology of growth plates postnatally, and that the pattern of cell division is similar to that of synchondroses. Mineralization at these junctions occurred at rates that were not statistically different from those of the synchondroses. However, the cartilaginous septum increased in length much more rapidly than could be explained by caudal growth, implying that interstitial expansion is the more important contributor to septal growth.     

Population-based study of facial morphology and excessive daytime somnolence

Studies in patients seeking attention for nasal obstruction or pharyngeal disorders suggest that craniofacial abnormalities correlate with obstructive sleep apnea, but there is little information on the relevance of this association in the population at large. We aimed to determine whether characteristics of facial morphology correlate with excessive daytime somnolence (EDS) in a population-based, door-to-door survey. Residents of a village in rural Ecuador were screened with the Epworth sleepiness scale to assess EDS and underwent physical examination with attention to nasal septum deflection, mandibular retrognathia and presence of Friedman's palate position type IV. From 665 participants aged ≥40 years, 155 had EDS, 98 had nasal septum deflection, 47 had mandibular retrognathia and 528 had a Friedman's palate position type IV. In a logistic regression model adjusted for age, sex, body mass index, and nightly sleep hours, persons with nasal septum deflection were twice as likely to have EDS (p = 0.009). The other two variables were not associated with EDS. Identification of nasal septum deflection may be a cost-effective method of detecting persons at risk for obstructive sleep apnea in remote areas where sophisticated technology is not readily available.     

Fissures,folds, and scrolls: The ontogenetic basis for complexity of the nasal cavity in a fruit bat (Rousettus leschenaultii)

Mammalian nasal capsule development has been described in only a few cross-sectional age series, rendering it difficult to infer developmental mechanisms that influence adult morphology. Here we examined a sample of Leschenault's rousette fruit bats (Rousettus leschenaultii) ranging in age from embryonic to adult (n = 13). We examined serially sectioned coronal histological specimens and used micro-computed tomography scans to visualize morphology in two older specimens. We found that the development of the nasal capsule in Rousettus proceeds similarly to many previously described mammals, following a general theme in which the central (i.e., septal) region matures into capsular cartilage before peripheral regions, and rostral parts of the septum and paries nasi mature before caudal parts. The ossification of turbinals also generally follows a rostral to the caudal pattern. Our results suggest discrete mechanisms for increasing complexity of the nasal capsule, some of which are restricted to the late embryonic and early fetal timeframe, including fissuration and mesenchymal proliferation. During fetal and early postnatal ontogeny, appositional and interstitial chondral growth of cartilage modifies the capsular template. Postnatally, appositional bone growth and pneumatization render greater complexity to individual structures and spaces. Future studies that focus on the relative contribution of each mechanism during development may draw critical inferences how nasal morphology is reflective of, or deviates from the original fetal template. A comparison of other chiropterans to nasal development in Rousettus could reveal phylogenetic patterns (whether ancestral or derived) or the developmental basis for specializations relating to respiration, olfaction, or laryngeal echolocation.     

A re-evaluation of the premaxillary bone in humans

The discovery of the premaxillary bone (os incisivum, os intermaxillare or premaxilla) in humans has been attributed to Goethe, and it has also been named os Goethei. However, Broussonet (1779) and Vicq dAzyr (1780) came to the same result with different methods. The first anatomists described this medial part of the upper jaw as a separate bone in the vertebrate skull, and, as we know, Coiter (1573) was the first to present an illustration of the sutura incisiva in the human. This fact, and furthermore its development from three parts:—(1) the alveolar part with the facial process, (2) the palatine process, and (3) the processus Stenonianus—can no longer be found in modern textbooks of developmental biology. At the end of the nineteenth and in the early twentieth century a vehement discussion focused on the number and position of its ossification centers and its sutures. Therefore, it is hard to believe that the elaborate work of the old embryologists is ignored and that the existence of a premaxillary bone in humans is even denied by many authors. Therefore this re-evaluation was done to demonstrate the early development of the premaxillary bone using the reconstructions of Felber (1919), Jarmer (1922) and data from our own observations on SEM micrographs and serial sections from 16 mm embryo to 68 mm fetus. Ossification of a separate premaxilla was first observed in a 16 mm embryo. We agree with Jarmer (1922), Peter (1924), and Shepherd and McCarthy (1955) that it develops from three anlagen, which are, however, not fully separated. The predominant sutura incisiva (rudimentarily seen on the facial side in a prematurely born child) and a shorter sutura intraincisiva argue in this sense. The later growth of this bone and its processes establish an important structure in the middle of the facial skull. Its architecture fits well with the functional test of others. We also focused on the relation of the developing premaxilla to the forming nasal septum moving from ventral to dorsal and the intercalation of the vomer. Thus the premaxilla acts as a stabilizing element within the facial skeleton comparable with the keystone of a Roman arch. Furthermore, the significance of the premaxillary anlage for the closure of the palatine was documented by a synopsis made from a stage 16, 10.2 mm GL embryo to a 49 mm GL fetus. Finally the growth of the premaxilla is closely related to the development of the human face. Abnormal growth may be correlated to characteristic malformations such as protrusion, closed bite and prognathism. Concerning the relation of the premaxillary bone to cleft lip and palate we agree with others that the position of the clefts is not always identical with the incisive suture. This is proved by the double anlagen of an upper–outer incisor in a 55 mm fetus and an adult.     

Could we prevent unilateral cleft lip/palate in the future?

Surveillance studies have shown that cleft lip and palate is one of the commonest craniofacial anomalies, occurring in approximately 1 in 500 live births. Previous studies on craniofacial form in unilateral cleft lip/palate subjects have been carried out, but most attention has been focused on the deformity of the bony septum whereas the deformities of the nasal spine and cartilaginous component of the septum had received little attention. Our recent study was based on monitoring a very specific type of nasal septal deformity, type 6, and its relation to the unilateral cleft lip/palate disease. This type is very anteriorly located and refers to the cartilaginous part of the nasal septum and the inter-maxillary bone itself. Rhinoscopic view shows a typical, almost horizontal, unilateral groove at the nasal septum located very anteriorly. At the opposite septal side, but corresponding location, there is so called basal crest.The results of our study showed that the incidence of type 6 septal deformity was very high not only in unilateral cleft lip/palate children (80.6%) but also in their parents (58% in at least one of them). In contrast, in our previous study this type of septal deformity was seen in only 3.7% of non-unilateral cleft lip/palate children before puberty, rising to 7.4% in students and 9.4% in adults.In other words, perhaps we can expect the onset of unilateral cleft lip/palate in the offspring of parents who both have a type 6 septal deformity. Perhaps there is a gene responsible for the onset of both type 6 septal deformity and the cleft.If these clinical entities belong to the same gene, the cleft per se could perhaps disappear from the Earth in a near future owing to the gene therapy which will be able to eliminate it before the baby is born or even conceived.