Cranial Deformation Research Articles

Positional plagiocephaly: results of the osteopathic treatment of 424 infants. An observational retrospective cohort study

BackgroundPositional plagiocephaly is an asymmetrical flattened skull deformity whose incidence increased significantly in the last decades. Osteopathic treatment has been suggested to tackle early deformational sequences, in order to ensure the correct development of the child.The aim of the study was to assess the effectiveness of osteopathic treatment of positional cranial deformities in infants.MethodsRetrospective observational study carried out at the Section of Neonatology and Neonatal Intensive Care Unit of the Department of Interdisciplinary Medicine of University of Bari, Italy in collaboration with a specialized pediatric osteopath.Results424 infants were enrolled. Isolated positional plagiocephaly affected the vast majority of infants (n. 390, 91.98%); 34 patients (8.02%) were diagnosed with positional brachycephaly. Both infant groups (positional plagiocephaly and positional brachycephaly) had a median severity score of 3 (IQR: 3 – 3 and 2 – 3, respectively) and benefited from a median of 3 osteopathic sessions (IQR 3–4 and 2–4, respectively). Higher severity scores of positional asymmetries were significantly more common in preterm neonates (Pearson chi2: 11.58; p-value: 0.021) and in males (Pearson chi2: 10.06; p-value: 0.039).ConclusionsSignificant improvements in positional cranial deformations of children were obtained after only five osteopathic treatments provided in the first months of life. The osteopathic treatment could positively impact the clinical history of patients with positional plagiocephaly and positional brachycephaly.Implication for practice• Positional plagiocephaly is increasingly common among infants and may cause moderate to severe neurodevelopmental adverse effects.• Osteopathic treatment may tackle early deformational sequences, in order to ensure the correct development of the child.• Our study reveals that cranial asymmetry of infants with positional plagiocephaly is significantly reduced after only five osteopathic treatments provided in the first months of life.• Osteopathic treatment should be offered as a first line approach to young infants diagnosed with positional plagiocephaly.

Does the distribution of Wormian bone frequencies across different world regions reflect genetic affinity between populations?

BackgroundWormian, or sutural bones, are additional, irregularly shaped bone fragments that can occur within cranial sutures. These bones may arise due to various factors, including mechanical pressure on skull bones during early ontogenetic stages, such as during artificial cranial deformations, or due to genetic and environmental influences. This study investigates the potential genetic basis of sutural bones by comparing their frequencies across diverse global regions. It analyzed 33 craniological series, encompassing 2059 crania, to assess the frequency of sutural bones in the coronal, squamous, lambdoid, and occipitomastoid sutures among skeletal populations from regions including Aboriginal Australia, Melanesia, Southeast Asia, Siberia, Europe, and Native America. Biological distances between populations were calculated using Smith’s mean measure of divergence (MMD), with results visualized through multidimensional scaling.ResultsThe analysis identified distinct clusters of Caucasian and Siberian populations. Siberian aboriginal populations are compactly grouped, consistent with mtDNA data indicating genetic roots dating back to the Neolithic inhabitants of the Lake Baikal region. Further, differentiation within these populations is linked to the founder effect and gene flow. Notably, genetically related groups like the Inuit and Chukchi of Chukotka differ from other Siberian groups. In contrast, southern Siberian populations, such as the Buryats and Mongols, are closely positioned, aligning with genetic data. The differentiation between Southeast Asian and African regions was subtler, with their clusters largely overlapping. Yet, genetic links between populations were observed in some cases. Thus, Australians, Melanesians, and Papua New Guineans were located close to each other on the multidimensional scaling map, as were two African populations.ConclusionsThe findings tentatively suggest a potential genetic component in the expression of Wormian bones, although this hypothesis requires further empirical support, particularly through genetic studies. While genetic factors may influence the expression of Wormian bones, environmental conditions and pathological processes also play significant roles. It can be suggested that Wormian bones could potentially serve as an additional tool in kinship analysis within burials; however, their utility significantly depends on the extent of their genetic influence. If future genetic studies confirm a substantial genetic component and its dominance over environmental factors, the use of these bones in anthropological and forensic analyses would receive additional validation.

Aral Sea Saka Tribes Study Based on Egistic Mausoleum Materials

The study analyses the Chirik-Rabat craniological data. The analysis includes new anthropological materials from the East-Aral Sea Egistic mausoleum. The collection is represented with 13 craniums – 6male and 7 female ones. A series of monuments was discovered between 1957 and 1961. These monuments date back to 3–2 centuries BC. The data provided by the authors are a significant addition to the already published researches. Some craniums have traces of the beshik cradle artificial cranial deformation. It was frequent in the Central Asia Saka people. Individuals were found with applanation on the back of their heads. It allows to conclude that early nomads often used beshik cradles because they led a nomadic lifestyle in the North Eurasia arid zone. 31% of the skulls have osteomas. This allows the conclusion on the burial ground being designed for families and the individuals being blood-related. The Chirik-Rabat craniological data have a vast amount of comparative data. The canonical analysis showed that the male artefacts belonged to the descendants of the preceding population. Besides the male skulls appeared to be close to both the neighbouring Saka tribes, Volga, Ural and West Kazakhstan Sarmatians. Whereas female artefacts showed no sign of descending from the early Saka population of the stated region. The study shows that these findings are associated with the Sauromatian-Sarmatian type of the Volga-Ural and Lower Volga population. This statement questions the theory of close contacts with both neighbouring communities and nomad Sarmatians of the Ural River basin.

A Social Network Analysis of Traditional Labrets and Horizontal Relationships in the Salish Sea Region of Northwestern North America

AbstractIn the Salish Sea region, labret adornment with lip plugs signify particular identities, and they are interpreted as emblematic of both membership in horizontal relationships and achieved status for traditional cultures associated with labret wearing on the Northwest Coast (NWC) of North America. Labrets are part of a shared symbolic language in the region, one that we argue facilitated access to beneficial horizontal relationships (e.g., Angelbeck and Grier 2012; Rorabaugh and Shantry 2017). We employ social network analysis (SNA) to examine labrets from 31 dated site components in the Salish Sea region spanning between 3500 and 1500 cal BP. Following this period, the more widely distributed practice of cranial modification as a social marker of status developed in the region. The SNA of labret data shows an elaboration and expansion of antecedent social networks prior to the practice of cranial modification. Understandings of status on the NWC work backward from direct contact with Indigenous societies. Labret wearing begins at the Middle-Late Holocene transition, setting an earlier stage for the horizontal social relationships seen in the ethnohistoric period. These findings are consistent with the practice as signifying restricted group membership based on affinal ties and achieved social status.

Body Modification on Viking Age Gotland

In recent years, research has provided evidence for permanent body modification in the Viking Age. Based on the current state of research, we identified around 130 male-gendered individuals from Scandinavia and beyond with dental alterations in form of horizontal furrows, most of them stemming from the Baltic isle of Gotland. We suggest that this custom was used as a sign of identification for a closed group of merchants. In contrast, artificial cranial modifications in the Viking Are so far are only known from three female individuals from Gotland. While both forms of body modification have received wide attention in other cultural contexts, the specific expressions of these customs in Viking Age society still lack systematic investigation with regard to their social implications. Based on the archaeological concept of embodiment and modern communication theories we discuss the perception of modified human bodies as media for the presentation and construction of social identities on Viking Age Gotland.

A Study on the Effectiveness of Helmet Therapy for Cranial Deformations According to Cranial Shape.

To investigate the effects of helmet therapy on plagiocephaly, according to head circumference, cephalic index (CI), and skull height. Plagiocephaly is a condition in which the skull is congenitally asymmetrical or affected by acquired factors such as compression in the womb or the habit of sleeping on one side. Although there are numerous studies on the effectiveness of helmet therapy for plagiocephaly, research on its effectiveness on skull shape is lacking. We conducted a prospective study on 400 patients who underwent helmet therapy. The infants were enrolled and the therapy was explained to the caregiver when the child had positional plagiocephaly and had a cranial vault asymmetry (CVA) exceeding 10 mm or a CVA index (CVAI) exceeding 3.5%. The CVA and CVAI changes were compared to investigate the effectiveness of helmet therapy according to head circumference, CI, and skull height. A significant treatment effect was observed for CI values between 90 and 103. The treatment effect was found to increase with greater skull height. However, no significant difference was observed in the effectiveness of helmet therapy according to head circumference. According to the findings, the effectiveness of helmet therapy in children with positional plagiocephaly is greater for children with higher skulls and for those with CI values between 90 and 103; it is unrelated to head circumference. Based on these results, we can provide predictions of the effectiveness of helmet therapy to caregivers of children with positional plagiocephaly.

Bioanthropological analysis of human remains from the archaic and classic period discovered in Puyil cave, Mexico.

Determine the geographic place of origin and maternal lineage of prehistoric human skeletal remains discovered in Puyil Cave, Tabasco State, Mexico, located in a region currently populated by Olmec, Zoque and Maya populations. All specimens were radiocarbon (14C) dated (beta analytic), had dental modifications classified, and had an analysis of 13 homologous reference points conducted to evaluate artificial cranial deformation (ACD). Following DNA purification, hypervariable region I (HVR-1) of the mitogenome was amplified and Sanger sequenced. Finally, Next Generation Sequencing (NGS) was performed for total DNA. Mitochondrial DNA (mtDNA) variants and haplogroups were determined using BioEdit 7.2 and IGV software and confirmed with MITOMASTER and WebHome softwares. Radiocarbon dating (14C) demonstrated that the inhabitants of Puyil Cave lived during the Archaic and Classic Periods and displayed tabular oblique and tabular mimetic ACD. These pre-Hispanic remains exhibited five mtDNA lineages: A, A2, C1, C1c and D4. Network analysis revealed a close genetic affinity between pre-Hispanic Puyil Cave inhabitants and contemporary Maya subpopulations from Mexico and Guatemala, as well as individuals from Bolivia, Brazil, the Dominican Republic, and China. Our results elucidate the dispersal of pre-Hispanic Olmec and Maya ancestors and suggest that ACD practices are closely related to Olmec and Maya practices. Additionally, we conclude that ACD has likely been practiced in the region since the Middle-Archaic Period.

Effects of adherence to treatment for repositioning therapy, physical therapy, and cranial remolding orthoses in infants with cranial deformation.

Deformational head shapes are most often treated through repositioning therapy (RT) and/or cranial remolding orthotic (CRO) treatment. However, there is conflicting evidence about the effectiveness of each method, and treatment compliance is suspected to affect treatment effectiveness. This study examines participant adherence with these treatment methods and explores if cranial correction is related to compliance. This study also reviews effects of developmental milestones and explores other potential impacts on compliance. A total of 45 infants with cranial deformation were consented and those with congenital muscular torticollis (CMT) concurrently received physical therapy. Infants were followed from 2 to 12months of age and initially assigned to RT. Caregivers continued RT until the head shape corrected, caregivers chose to switch to a CRO, or infants turned 12months of age. All participants were scheduled for a final visit at 12months of age. Throughout treatment, caregiver surveys were used to examine compliance and developmental milestones. Results show promise for future investigation into the relationship between treatment modalities and adherence with treatment for deformational head shapes. Our findings provide preliminary support that treatment adherence may be linked with treatment success and concurrent enrollment in physical therapy increases patient compliance.

The Outcomes of Endoscopic Suturectomy in Syndromic Craniosynostosis.

Endoscopic suturectomy is a widely practiced surgical option for infants with craniosynostosis. But the efficacy and safety of the procedure remain unclear in syndromic patients. This study aims to evaluate the efficacy and safety of endoscopic suturectomy for patients with syndromic craniosynostosis. From January 2013 to December 2020, 242 patients underwent endoscopic suturectomy at our institution. The surgical outcome was determined to be favorable or unfavorable based upon the necessity of an additional cranial surgery upon the last follow-up. First, we analyzed the outcomes of 26 syndromic craniosynostosis patients who have followed up for over a year. Second, we compared the outcomes between the syndromic (N=12) and nonsyndromic (N=11) patients with bilateral coronal synostosis who have followed up for over a year. Twenty-three out of 26 syndromic craniosynostosis patients (88%) showed favorable outcomes without significant complications. In the analysis for bilateral coronal synostosis patients, 11 of 12 syndromic patients (92%) presented favorable outcomes, and all nonsyndromic patients showed favorable outcomes. No significant differences were observed in various anthropometric indices (cranial index, intracranial volume, anterior cranial height, anterior cranial base length, and cranial height-length index) and surgical outcomes between syndromic and nonsyndromic groups. Endoscopic suturectomy has the potential to be a surgical option for syndromic craniosynostosis. Even for patients with unfavorable outcomes, endoscopic suturectomy could serve as a bridge treatment for infants to counter cranial deformation before additional extensive surgery.

Smartphone Photogrammetric Assessment for Head Measurements.

The assessment of cranial deformation is relevant in the field of medicine dealing with infants, especially in paediatric neurosurgery and paediatrics. To address this demand, the smartphone-based solution PhotoMeDAS has been developed, harnessing mobile devices to create three-dimensional (3D) models of infants' heads and, from them, automatic cranial deformation reports. Therefore, it is crucial to examine the accuracy achievable with different mobile devices under similar conditions so prospective users can consider this aspect when using the smartphone-based solution. This study compares the linear accuracy obtained from three smartphone models (Samsung Galaxy S22 Ultra, S22, and S22+). Twelve measurements are taken with each mobile device using a coded cap on a head mannequin. For processing, three different bundle adjustment implementations are tested with and without self-calibration. After photogrammetric processing, the 3D coordinates are obtained. A comparison is made among spatially distributed distances across the head with PhotoMeDAS vs. ground truth established with a Creaform ACADEMIA 50 while-light 3D scanner. With a homogeneous scale factor for all the smartphones, the results showed that the average accuracy for the S22 smartphone is -1.15 ± 0.53 mm, for the S22+, 0.95 ± 0.40 mm, and for the S22 Ultra, -1.8 ± 0.45 mm. Worth noticing is that a substantial improvement is achieved regardless of whether the scale factor is introduced per device.

Преднамеренная искусственная деформация у населения позднесарматского времени (палеопатологический аспект)

Introduction. Intentional artificial head deformation is one of the most striking features of the late Sarmatian nomads from the Eastern European steppes. For quite a long time, archaeologists and anthropologists tried to solve the issues associated with this custom’s emergence and existence in the population of the 2nd – 4 th centuries AD. Later, the question of the deforming structure’s impact on the normal life of a person became a separate research line for the phenomenon of artificial cranial deformation in the late Sarmatians. Methods and materials. 155 craniums of sexually mature late Sarmatian populations (2nd – 4th centuries AD) originating from under the burial mounds in the territory of the Lower Volga region were the material for the study. Comparison of pathological conditions occurrence between the deformed and undeformed skull groups was carried out using nonparametric tests: Pearson’s chi-squared test (χ2) and Fisher’s exact test. Results. Comparative analysis of pathological conditions occurrence on deformed and undeformed skulls in late Sarmatian time has shown that the only deviation in which the compared series differ significantly is temporomandibular joint arthritis. Discussion. The frequency and degree of articular disease development in late Sarmatians with intentional artificial head deformities increase with age. The age-related variability of arthrotic changes in the mandibular joint area indicates the involutionary nature of this condition. At the same time, the absence of statistical differences between age groups in the distribution frequencies of this pathology and its wide distribution in young individuals under 35 years of age suggest that artificial skull deformation is one of the factors stimulating its development. Conclusions. Degenerative changes in the temporomandibular joint area are a statistically more widespread pathology in deformed skulls. The absence of gender differences between the deformed and undeformed skulls in the late Sarmatians, as well as the groups of pathologies associated with diet and the degree of negative factors impacting the natural and social environment, indicates that this custom in the late Sarmatian society did not carry the function of gender or social differentiation. The use of a modifying structure for deliberate artificial cranial deformation is quite compatible with normal human life, and its use did not subsequently lead to the development of serious skull and brain pathologies.

From the Eurasian steppe to the Lower Danube: the tradition of intentional cranial deformation during the Bronze Age

From the Eurasian steppe to the Lower Danube: the tradition of intentional cranial deformation during the Bronze Age

Positional cranial deformities in preterm infants and their association with health indicators.

To describe positional cranial deformities and peri/postnatal pathologies in preterm infants and to analyze the association between gestational age, birth weight, length of hospitalization, and severity of cranial deformities measured by the Cranial Vault Asymmetry Index (CVAI) and the Cephalic Index (CI). Analytic, cross-sectional study. 103 preterm infants aged under 4 months of corrected age admitted during 2017 to an Early Intervention Program (EIP) were included. Participants were classified according to gestational age as follows: extremely preterm (< 28 weeks), very preterm (28-32 weeks), and moderate-to-late preterm (32-37 weeks). Head circumference, anteroposterior diameter, width, and head diagonals were measured, and the CVAI and CI were calculated. Peri- and postnatal history was obtained from clinical records. 103 preterm infants were evaluated (17 extremely preterm, 78 very preterm, and 8 moderate-to-late preterm). 99 (96.1%) of the preterm infants had positional cranial deformity and, regardless of the degree of prematurity, presented similar cranial anthropometric measurements. Mild plagiocephaly was the most frequent cranial deformity in all groups. We observed a positive association between the days of hospitalization and the CVAI and there was no relationship between the degree of prematurity and the severity of the positional cranial deformation. Most of the patients admitted to the EIP presented positional cranial deformities, mainly mild plagiocephaly, regardless of the degree of prematurity. The presence of plagiocephaly was positively associated with prolonged periods of hospitalization. No relationship was confirmed between the degree of prematurity and the severity of the positional cranial deformity.

Isotopic sourcing reveals changing subsistence, cultural diversity and biological correlates with palaeodiet in fourth- to seventh-century AD Bavaria

Stable carbon and nitrogen isotopic ratios (δ13C, δ15N) in bone collagen of archaeological skeletal finds are indicators of the protein sources in individuals’ basic diet. Isotopic sourcing allows us to quantify the biomass contribution of major dietary components and to differentiate between the source contribution of various animal species (domesticates, game). We re-evaluated previously published isotopic signatures in skeletons from three burial sites in Bavaria, dated from Late Antiquity to Early Mediaeval times (Erding-Klettham, Erding-Altenerding, Straubing-Bajuwarenstraße) by use of a mixing model. The result is a more detailed reconstruction, supported by contextual evidence, of both early subsistence economies and individual dietary preferences. We were able to confirm relationships between non-local dietary behaviour and foreign cultural influences (grave goods and artificial cranial modification) that have previously been suggested by the burial context and DNA analyses and that are plausibly explained by migration events. Moreover, we differentiated early and late immigrants from each other, requiring a re-evaluation of the earlier interpretation of exogamy. In addition, individual dietary preferences indicate even more migration events and social stratifications that could not previously be identified by the archaeological evidence alone.

Between Raetia Secunda and the dutchy of Bavaria: Exploring patterns of human movement and diet.

During the transition from Late Antiquity to the Middle Ages, the Roman Empire dissolved in the West and medieval empires were founded. There has been much discussion about the role that migration played in this transition. This is especially true for the formation of the Baiuvariian tribe and the founding of this tribal dukedom, which took place from the 5th to the 6th century in what is now Southern Bavaria (Germany). In this study, we aimed to determine the extent of immigration during the beginning of this transformation and to shed further light on its character. To achieve this goal, we analyzed stable isotope values of strontium, carbon, and nitrogen from the teeth and bones of over 150 human remains from Southern Germany, dating from around 500 AD. This group of individuals included women with cranial modifications (ACD) which can be found sporadically in the burial grounds of this period. Our results showed an above-average migration rate for both men and women in the second half of the 5th century. They also indicate that a foreign background may also be assumed for the women with ACD. The demonstrably different origins of the immigrants from isotopically diverse regions, and the identification of local differences in detectable migration rate, as well as indication for different timing of residential changes, highlight the complexity of immigration processes and the need for more studies at the regional level.

Two God-Kings, Two Skulls: Artificial Cranial Deformation in Akhenaten of Egypt and Khingila of the Huns.

Separated by half a continent and over 1800 years, Akhenaten, the "Heretic Pharaoh" of Egypt, and Khingila, "The God-King" of the Alchon Huns, had a great deal in common. Both rulers laid claim to divinity, labeling themselves as gods amongst men, and both are represented in their official imagery with unusually shaped skulls consistent in appearance with artificial cranial deformation (ACD) performed upon them soon after birth. This article compares the evidence - including the KV55 mummy, likely the remains of Akhenaten himself - between the two God-Kings and determines that Khingila almost certainly possessed an annular erect ACD consistent with the wider Hun culture. Akhenaten's ACD in his state-sponsored imagery was likely solely an artistic choice meant to emphasize his oneness with the divine. In both men, their represented ACD was ultimately intended to solidify their power through two different avenues. For Khingila, it was to emphasize a common ethnic and cultural heritage with his subjects. For Akhenaten, it was meant to set the pharaoh even further apart from the rest of humanity.

Paleopathological analysis of the cranial samples from Pre-Columbian Cuba

The article presents a paleopathological analysis of two cranial samples from pre-Columbian Cuba: the Si-boney (also known as Archaic) sample consisting of 40 individuals and the Taíno sample composed of 27 indi-viduals. The Siboney are believed to have arrived to Cuba around 5000 years ago, and the Taíno inhabited the island since approximately 500 AD until decimation by the newcomers from the Old World. All the Taíno crania exhibit fronto-occipital artificial deformation. The main focus of the study is oral pathologies and bone abnormali-ties observed in the samples and how these reflect the differences between the two groups and individuals within each of them. Dental pathologies (caries, abscesses, antemortem tooth loss, and dental calculus) are more fre-quent in each sample's male and elder groups. The two samples compared together are close in the frequencies of caries, abscesses, and AMTL, while dental calculus is more frequent among the Taíno. The two cultural groups had different subsistence strategies: the Siboney were hunter-fisher-gatherers with the exception of the Canímar Abajo subgroup, for whom consumption of cultigens is proved, the Taíno were agriculturalists. In paleopathologi-cal studies, agricultural subsistence is usually associated with a higher rate of caries and lower rate of dental cal-culus. However, even after excluding individuals from Canímar Abajo from the Siboney sample, the difference in the caries rate between the two samples stayed insignificant. This could be due to carbohydrate-rich fruits that played an important role in the Archaic population’s diet. Pathological markers observed in the studied crania were classified according to Donald Ortner’s typology of bone abnormalities, which includes four major categories (abnormal bone size, abnormal bone or bone group shape, abnormal bone formation and abnormal bone destruc-tion) and subcategories within them. Such an approach focuses mainly on the appearance of the lesions rather than on their possible causes. Pathological markers seen in the samples can suggest infectious, neoplastic, my-cotic diseases, metabolic disorders. Possible antemortem traumas are infrequent in both samples. Specific to the Taíno crania is premature suture closure, which most probably is the consequence of artificial cranial deformation. In general, the analysis did not reveal significant differences in the two group's pathological statuses.

Ludmila of Bohemia (ca. 860–921): Multidisciplinary considerations on her facial approximation

Ludmila of Bohemia or Saint Ludmila (ca. 860–921) is a popular religious figure from the Czech Republic. In 2021, the reliquary containing part of her skull was scanned and the missing portion of the structure was digitally reconstructed using references from anthropological studies carried out in the late 1990s by Dr. Emanuel Vlček, Ph.D. (1925–2006). From the completed skull, an estimation of facial hard tissue made a forensic facial approximation possible. The present study aims to present the sequence of methodological analysis, the development of new techniques and procedures used in this case that can become tools to facilitate the task of digitally restoring skulls with missing structures that can be applied in archeological and surgical context. The cranial hard tissue from an anonymous donor of a CT-Scan exam was “deformed” to fit onto the remains of the historical skull of Ludmila of Bohemia. The estimated facial proportions were tested by several methods that correlate the proportions of cranial structures. The reconstruction was performed based on several scientific parameters and the resulting structures were also consistent to predictors commonly used in the forensic field. The cranial deformation method provided a hard tissue estimation and gave reference to a facial approximation of a historical figure. Its development and testing may inspire future research to support a wide range of applications that goes from archaeology to medical usage.

The Role of Kinship in Cranial Modification at the Paracas Necropolis

This article seeks to investigate the motivation for the cranial modification observed on remains recovered from the 2nd century BCE-3rd century CE site in Peru known as the Paracas Necropolis. This article argues that the explanations normally offered by anthropologists for cranial modification, such as that it is representative of sex and status, are not applicable to the Paracas Necropolis and instead, an alternative explanation is put forward which states that each of the different forms of cranial modification seen at the Paracas Necropolis is symbolic of a different kin group that existed at the site. The association of certain forms of cranial modification performed at the Paracas Necropolis with other possible symbols of kinship, such as body paint and certain textile styles, along with evidence of a Nazca presence at the necropolis will be used to support this explanation. The evidence that the Paracas Necropolis was reserved for priestly burials will be used to make evaluations of how equal the access to different occupations at the site was for both sexes and for the various kin groups.

Comprehensive Genetic Evaluation of Bulgarian Children with Syndromic Craniosynostosis.

Syndromic craniosynostosis (SC) is a genetically determined premature closure of one or more of the cranial sutures, which may result in severe dysmorphism, increased intracranial pressure along with many other clinical manifestations. The considerable risk of complications along with their significant incidence makes these cranial deformations an important medical problem. Aiming to elucidate the complex genetic etiology of syndromic craniosynostosis, we investigated 39 children, screened systematically with a combination of conventional cytogenetic analysis, multiplex ligation-dependent probe amplification (MLPA) and array-based comparative genomic hybridisation (aCGH). Pathological findings were established in 15.3% (6/39) of the cases using aCGH, in 7.7% (3/39) using MLPA and 2.5% (1/39) using conventional karyotyping. About 12.8% (5/39) of the patients with normal karyotype carried submicroscopic chromosomal rearrangements. Duplications were found to be more common than deletions. Conclusion: The systematic genetic evaluation of children with SC revealed a high prevalence of submicrosopic chromosomal rearrangements (most commonly duplications). This suggests the leading role of those defects in the pathogenesis of syndromic craniosynostosis. The genetic complexity of SC was reaffirmed by the dis Bulgaria covery of pathological findings in various chromosomal regions. Certain genes were discussed in conjunction with craniosynostosis.