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PURPOSE: Endoscopically assisted sagittal strip craniotomy with subsequent cranial orthosis is a frequently used surgical approach for non-syndromic sagittal synostosis. Originally, this technique involved a wide sagittal strip craniectomy with bilateral wedge osteotomies. More recent studies suggest omitting wedge osteotomies, achieving similar outcomes. The controversy surrounding wedge osteotomies and our efforts to refine our technique led us to create models and evaluate the mechanical impact of wedge osteotomies. METHODS: We conducted a 3D-print study involving preoperative CT scans of non-syndromic scaphocephaly patients undergoing minimally invasive-assisted remodelation (MEAR) surgery. The sagittal strip collected during surgery underwent thickness measurement, along with a 3-point bending test. These results were used to determine printing parameters for accurately replicating the skull model. Model testing simulated gravitational forces during the postoperative course and assessed lateral expansion under various wedge osteotomy conditions. RESULTS: The median sagittal strip thickness was 2.00 mm (range 1.35-3.46 mm) and significantly positively correlated (p = 0.037) with the median force (21.05 N) of the 3-point bending test. Model testing involving 40 models demonstrated that biparietal wedge osteotomies significantly reduced the force required for lateral bone shift, with a trend up to 5-cm-long cuts (p = 0.007). Additional cuts beyond this length or adding the occipital cut did not provide further significant advantage (p = 0.1643; p = 9.6381). CONCLUSION: Biparietal wedge osteotomies reduce the force needed for lateral expansion, provide circumstances for accelerated head shape correction, and potentially reduce the duration of cranial orthosis therapy.

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This study aimed to provide an external validation of morphometric outcomes, including recently developed parameters - vertico-longitudinal index (VLI) and vertex-nasion-opisthocranion (VNO) angle - along with a proposed stratification system for nonsyndromic sagittal craniosynostosis (NSC). Thin-cut CT scans performed before and after total calvarial remodeling in 70 NSC children (mean preoperative age, 7.0 months; mean postoperative age 23.8 months) were evaluated. The parameters, including linear dimensions, morphometry-based indices, and cranial angles, were measured at the cranial vault and base. Each patient was also assigned a scaphocephaly severity score (SSS). The obtained data were compared with an age-matched control group of 80 normocephalic children. After surgery, all dimensions of the cranial vault increased, but did not normalize (p < 0.0001). Contrarily, some normalization was noted in the skull base, within the anterior and posterior cranial fossae. Postoperative results confirmed the diagnostic cut-off level for VNO at 50°; however, the proposed VLI cut-offs skewed the accuracy of SSS in the control group. To the best of our knowledge, this study was the first to discuss the value of an NSC stratification system in relation to underlying components. The SSS has a relevant background, but its accuracy would increase with a redefinition of normative VLI ranges.

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OBJECTIVE: The purpose of this study was to evaluate the surgical complications of patients treated for nonsyndromic sagittal craniosynostosis and the necessity for reoperations due to craniocerebral disproportion. MATERIALS AND METHODS: The patient cohort of this study consisted of patients (N = 82) who were treated in the Oulu University Hospital using the open vault cranioplasty with a modified H-technique between the years 2008 to 2022. There were 69 males (84.1%) and 13 females (15.9%). The mean age at the primary operation was 6.1 months. Mean follow-up time was 9.0 years. RESULTS: There were no major complications related to the procedures. Two patients (2.4%) had a minor dural lesion. There were no postoperative wound infections. Of the 82 patients, seven patients with primary craniosynostosis (13.0%) developed symptomatic craniocerebral disproportion requiring reoperation to increase intracranial volume. In all these patients, invasive intracranial pressure (ICP) monitoring was performed prior to decision-making. In the majority of cases, the aesthetical outcome was considered good or excellent. CONCLUSION: The operative method used was feasible and safe. Thirteen percent of patients who were followed over 5 years required major surgery due to development of craniocerebral disproportion later in life.

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Scaphocephaly is the most common type of craniosynostosis and various surgical techniques are used for treatment. Due to late postoperative changes of the head shape, long-term outcome data is important for evaluating any new surgical technique. At our institution, minimally invasive strip craniectomy without regular helmet therapy is the standard treatment in scaphocephalic patients. Between October 2021 and February 2023, we retrospectively examined the skull shape of patients who underwent minimally invasive strip craniectomy for scaphocephaly using a 3D surface scan technique. The cephalic index (CI), the need for helmet therapy and additional cosmetic outcome parameters were investigated. We included 70 patients (72.5% male). The mean follow-up time was 46 (10-125) months and the mean CI was 75.7 (66.7-85.2). In 58 patients, the final cosmetic result was rated as "excellent/good" (mean CI: 76.3; 70.4-85.0), in 11 as "intermediate" (mean CI: 73.3; 66.7-77.6), and in one case as "unsatisfactory" (CI 69.3). The presence of a suboccipital protrusion was associated with a "less than good" outcome. The CI correlated significantly with the overall outcome, the presence of frontal bossing, and the interval between scan and surgery (age at scan). Minimally invasive strip craniectomy is an elegant and safe method to correct scaphocephaly. Our data show good cosmetic results in the long term even without regular postoperative helmet therapy.

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PURPOSE: To provide additional information on optimal start times and therapeutic effectiveness based on treatment outcome of Japanese infants with positional plagio- and brachycephaly (PPB) receiving cranial molding helmet therapy (CMHT). METHODS: In this retrospective cohort study, data from a 3D head scanning system was analyzed from 2173 Japanese infants who completed CMHT. Anterior and posterior symmetry ratio (ASR and PSR) and longitudinal to transverse diagonal ratios (LD/TDR) were calculated based on skull shape at helmet design and at completion of therapy. The outcomes were evaluated using the regression analysis and a predictive model using cranial parameters was developed. RESULTS: The earlier the start of therapy, the greater the therapeutic effect on ASR, PSR, and LD/TDR (ASR, -0.134 percent points (ppt)/day; PSR, -0.086 ppt/day; and LD/TDR, -0.131 ppt/day). In the predictive model, in addition to starting age of the therapy, sex (male), the degree of deformity of the head (DoD) (moderate and severe), quadrant volume, PSR, and head circumference at the start of treatment also had a positive effect on changes in ASR, DoD (moderate and severe), ASR, LD/TDR and transverse diameter for PSR, sex (male), DoD (moderate), quadrant volume, PSR, and head circumference for LD/TDR. CONCLUSION: The starting age of therapy had a relatively smaller contribution to outcome effects. Applying the cranial parameter obtained at the start of treatment to the predictive model helps to predict the effect of CMHT and whether PPB can be treated with CMHT in infants of older age.

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Sagittal craniosynostosis, a rare but fascinating craniofacial anomaly, presents a unique challenge for both diagnosis and treatment. This condition involves premature fusion of the sagittal suture, which alters the normal growth pattern of the skull and can affect neurological development. Sagittal craniosynostosis is characterised by a pronounced head shape, often referred to as scaphocephaly. Asymmetry of the face and head, protrusion of the fontanel, and increased intracranial pressure are common clinical manifestations. Early recognition of these features is crucial for early intervention, and understanding the aetiology is, therefore, essential. Although the exact cause remains unclear, genetic factors are thought to play an important role. Mutations in genes such as FGFR2 and FGFR3, which disrupt the normal development of the skull, are suspected. Environmental factors and various insults during pregnancy can also contribute to the occurrence of the disease. An accurate diagnosis is crucial for treatment. Imaging studies such as ultrasound, computed tomography, magnetic resonance imaging, and three-dimensional reconstructions play a crucial role in visualising the prematurely fused sagittal suture. Clinicians also rely on a physical examination and medical history to confirm the diagnosis. Early detection allows for quick intervention and better treatment outcomes. The treatment of sagittal craniosynostosis requires a multidisciplinary approach that includes neurosurgery, craniofacial surgery, and paediatric care. Traditional treatment consists of an open reconstruction of the cranial vault, where the fused suture is surgically released to allow normal growth of the skull. However, advances in minimally invasive techniques, such as endoscopic strip craniectomy, are becoming increasingly popular due to their lower morbidity and shorter recovery times. This review aims to provide a comprehensive overview of sagittal craniosynostosis, highlighting the aetiology, clinical presentation, diagnostic methods, and current treatment options.

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PURPOSE: The aim of the study was to compare the results of two surgical techniques for the treatment of isolated sagittal synostosis (ISS) by means of 3D stereophotogrammetry. One technique, the Renier's "H" technique (RHT) comprised a biparietal expansion, the other, the total vault remodeling (TVR) included also a frontal remodeling. METHODS: The two groups of operated children were compared with a third control group of normocephalic children. The 3D scanning was performed in all children between 12 and 245 months of age. On each 3D image six measurements and indices have been made, with the aim of evaluating not only length and width of the head, but also the height. The cranial index (CI) was measured in a plane parallel to the nasion-tragus plane, at the intersection with the opisthocranion. RESULTS: Each of the three groups (RHT, TVR, control group) included 28 children. The measurements that were influenced by the correction of the frontal bossing, namely the CI and the sagittal length, were closer to normocephaly after TVR than after RHT. Lesser or no statistical difference was documented in the measurements evaluating the biparietal aspect and the height of the vertex, indicating that the biparietal expansion is effective in both procedures. CONCLUSION: Based on our results TVR results in a better esthetical outcome, particularly in relation to the direct surgical remodeling of the frontal bossing.

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AIM: To establish the prevalence of positional head deformations (PHDs) within a neonatal unit (NU) setting, and to evaluate the subsequent impact that PHDs have on NU graduates and their families. METHODS: A prospective audit was conducted over a six-week period within a tertiary NU (Brisbane, Australia). Eligible babies were measured weekly using a craniometer where presence, type and severity of PHD were determined. Univariate analysis was undertaken to establish differences in clinical characteristics between babies with, and without, the presence of PHD. A study-specific survey was completed by a separate set of families returning for outpatient follow-up services who represented similar clinical characteristics and risk factors for PHD. RESULTS: Fifty-three babies were eligible for inclusion in the audit. PHDs were identified in 66% (n = 35) of the cohort, the most common being scaphocephaly (52.8%, n = 28). Within that, 46% (n = 13) were classed as mild, 25% (n = 7) were moderate and 29% (n = 8) were severe. Moderate correlation (r = 0.55) was found between severity of scaphocephaly, and length of time spent in an isolette. Of the 10 (66% response from 15 families) surveys completed, 80% of respondents perceived that their child's PHD had impacted their life. CONCLUSIONS: Two-thirds of babies developed a PHD during their neonatal admission. Most families surveyed perceived this condition to have an impact on their lives beyond the confines of the nursery. Further research is needed to identify preventative interventions to decrease the prevalence and severity of this common condition.

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OBJECTIVE: Surgical techniques to correct scaphocephaly often rely on the implantation of foreign material and/or postoperative helmet therapy and possibly result in minimal correction of frontal bossing. Moreover, foreign material and helmet therapy are associated with extra medical care and financial costs. Frontal bossing is perceived as a prominent, disfiguring feature of scaphocephaly. Herein, authors present the results of a total cranial vault remodeling technique that corrects scaphocephaly features without relying on foreign material or postoperative helmet therapy. It includes frontal release and pterional decompression, which aim to correct frontal bossing. METHODS: All patients who had been operated on for isolated scaphocephaly at a single institution between January 2011 and December 2020 were included in this retrospective review. Operation time, transfusion volume, hospital stay, complications, cephalic index (CI), and bossing angle (BA) were analyzed. RESULTS: Sixty-five patients with nonsyndromic scaphocephaly were included in this analysis. Imaging to calculate the CI and BA preoperatively, immediately postoperatively, and 1 year postoperatively was available in 22 and 20 patients, respectively. The mean CI increased from 69.2% preoperatively to 74.6% postoperatively and 75.5% 1 year postoperatively. The mean BA decreased from 114.5° preoperatively to 111.6° postoperatively and 108.9° 1 year postoperatively. The mean operating time was 2 hours 4 minutes, and the median blood transfusion volume was 100 ml. There were no major complications or reoperations. CONCLUSIONS: The described total cranial vault remodeling technique is a safe procedure that mitigates total treatment burden, as no helmet therapy or implantation of foreign material is needed. It is effective in correcting CI and results in significant frontal bossing correction. The latter is attributed to a distinctive feature of the technique: frontal release and pterional decompression.

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INTRODUCTION: Sagittal craniosynostosis (SC) is associated with scaphocephaly, an elongated narrow head shape. Assessment of regional severity in the scaphocephalic head is limited by the use of serial computed tomographic (CT) imaging or complex computer programing. Three-dimensional measurements of cranial surface morphology provide a radiation-free alternative for assessing cranial shape. This study describes the creation of an occipital bulleting index (OBI), a novel tool using surface morphology to assess the regional severity in patients with SC. METHODS: Surface imaging from CT scans or 3D photographs of 360 individuals with SC and 221 normocephalic individuals were compared to identify differences in morphology. Cartesian grids were created on each individual's surface mesh using equidistant axial and sagittal planes. Area under the curve (AUC) analyses were performed to identify trends in regional morphology and create measures capturing population differences. RESULTS: The largest differences were located in the medial regions posteriorly. Using these population trends, a measure was created to maximize AUC. The OBI has an AUC of 0.72 with a sensitivity of 74% and a specificity of 61%. When the frontal bossing index is applied in tandem, the two have a sensitivity of 94.7% and a specificity of 93.1%. Correlation between the two scores in individuals with SC was found to be negligible with an intraclass correlation coefficient of 0.018. Severity was found to be independent of age under 24 months, sex, and imaging modality. CONCLUSIONS: This index creates a tool for differentiating control head shapes from those with SC and has the potential to allow for objective evaluation of the regional severity, outcomes of different surgical techniques, and tracking shape changes in individuals over time, without the need for radiation.

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Craniosynostosis is characterized by congenital absence or premature closure of skull sutures. The most common form of craniosynostosis is synostosis of sagittal suture followed by scaphocephaly. There are some head deformities similar to scaphocephaly such as positional and constitutional dolichocephaly, etc. These patients have no sagittal suture synostosis. However, there are difficulties in differential diagnosis between these deformities and scaphocephaly. OBJECTIVE: To develop differential diagnostic criteria between dolichocephalic head deformities and true scaphocephaly following sagittal synostosis. MATERIAL AND METHODS: The study included 33 patients with dolichocephaly (25 (75.8%) boys and 8 (24.2%) girls) between December 2013 and August 2022. The inclusion criterion was available CT or ultrasound data confirming or excluding sagittal synostosis. Age of patients was 8.62±7.71 (1.77-36) months. We analyzed anamnestic, clinical and radiological data. Radiological data was compared with diagnostic findings in 20 patients with scaphocephaly. Both groups were comparable in age, gender and cranial index. RESULTS: We present clinical and radiological signs, as well as algorithm for differential diagnosis between scaphocephaly and dolichocephaly. CONCLUSION: There are objective difficulties in differential diagnosis between scaphocephaly following sagittal synostosis and dolichocephalic head deformities. In most cases, we cannot establish the cause of congenital forms of dolichocephaly. The most likely causes may be pre- and postnatal compressive and positional effects. Ultrasound of skull sutures is preferable for differential diagnosis between these abnormalities. Correction of dolichocephaly can be carried out according to aesthetic indications with individual cranial orthoses.

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Very few clinical entities have undergone so many different treatment approaches over such a short period of time as craniosynostosis. Surgical treatments for this condition have ranged from simple linear craniectomies, accounting for the specific role of cranial sutures in assuring the normal growth of the skull, to more complex cranial vault reconstructions, based on the perceived role of the skull base in affecting the growth of the skull. While a great deal of evolution has occurred, there remains controversy regarding the ideal treatment including the best surgical technique, the optimal age for surgery, and the long-term morphological and neurodevelopmental outcomes. The evolution of the surgical management of craniosynostosis in the last 50 years has been affected by several factors. This includes the awareness of needing to operate on affected children during infancy to achieve the best results, the use of multistage operations, the availability of more sophisticated surgical tools, and improved perioperative care. In some forms of craniosynostosis, the operations can be carried out at a very young age with low morbidity, and with the postoperative use of a molding helmet, springs, or distractors, these operations prove to be as effective as traditional larger cranial reconstructions performed in older children. As a consequence, complex surgical operations have become progressively less utilized. A second relevant advance was the more recent advent of a molecular diagnosis, which allowed us to understand the pathogenesis of some associated malformations and neurodevelopmental issues that were observed in some children despite appropriate surgical treatment. Future research should focus on improving the analysis of longer-term outcomes and understanding the natural history of craniofacial conditions, including what issues persist despite optimal surgical correction. Progress in molecular investigations concerning the normal and pathological development of cranial sutures could be a further significant step in the management of craniosynostosis, possibly favoring a "medical" treatment in the near future. Artificial intelligence will likely have a role in establishing the diagnosis with less reliance on radiographic studies and in assisting with surgical planning. Overall, much progress has been made, but there remains much to do.

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OBJECTIVE: A literature gap exists comparing whole head shape outcome following correction of sagittal craniosynostosis. The objective of this multicenter study was to provide an analysis of long-term results following three different endoscopic strip craniectomy techniques for correction of sagittal craniosynostosis: 1) spring-assisted strip craniectomy, 2) wide-strip craniectomy with biparietal and bitemporal barrel-stave wedge osteotomies plus helmet orthosis, and 3) narrow-strip craniectomy plus orthosis without barrel staves. METHODS: Pre- and postoperative 3D stereophotogrammetric images were collected from patients who underwent craniosynostosis surgery. Procedures were divided among institutions as follows: spring-assisted strip craniectomies were performed at Atrium Health Wake Forest Baptist Hospital; narrow-strip craniectomies were performed at St. Louis Children's Hospital by one craniofacial surgeon; and wide-vertex craniectomies were performed at St. Louis Children's Hospital prior to 2010, and then continued at Children's Medical Center Dallas. Pre- and postoperative 3D whole-head composite images were generated for each procedure to visually represent outcomes at final follow-up and compared with age-matched normal controls. RESULTS: Patients in the spring-assisted strip craniectomy group showed normalization of frontal bossing and skull height compared with age-matched controls, whereas patients undergoing wide-strip craniectomy showed greater correction of occipital protrusion. Patients in the narrow-strip craniectomy cohort had intermediate results between these outcomes. Nested aggregate head shapes showed good correction of head shapes from all techniques. CONCLUSIONS: This large, retrospective, multicenter study illustrated whole head shape outcomes from three different craniectomy procedures. Although each procedure showed some differences in loci of primary correction, all three surgical methods demonstrated good correction of primary scaphocephalic deformity.

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PURPOSE: Numerous classification systems of nonsyndromic sagittal craniosynostosis (NSC) are applied but none has gained a wide acceptance, since each classification is focused on distinct aspects of cranial dysmorphology. The goal of this study was to depict the most common combinations of radiomorphologic characteristics of NSC and to separate groups where the patients were morphologically similar to one another and at the same time significantly different from others. METHODS: The study was conducted on anonymized thin-cut CT scans of 131 children with NSC aged 1-12 months (mean age 5.42 months). The type of cranial dysmorphology was assessed using four criteria: skull shape, pattern of sagittal suture fusion, morphologic features and cerebrospinal fluid (CSF) spaces alterations. After assigning the categories, an unsupervised k-modes clustering algorithm was applied to identify distinct patients clusters representing radiomorphologic profiles determined by investigated characteristics. RESULTS: Cluster analysis revealed three distinct radiomorphologic profiles including the most common combinations of features. The profiles were not influenced by sex nor age but were significantly determined by skull shape (V = 0.58, P < 0.0001), morphologic features (V = 0.50, P < 0.0001) and pattern of sagittal suture fusion (V = 0.47, P < 0.0001). CSF alterations did not significantly correlate with the profiles (P = 0.3585). CONCLUSION: NSC is a mosaic of radiologic and morphologic features. The internal diversity of NSC results in dissimilar groups of patients defined by unique combinations of radiomorphologic characteristics, from which the skull shape is the most differentiating factor. Radiomorphologic profiles support the idea of clinical trials targeted at more selective outcomes assessment.

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Craniosynostosis is a rare condition of skull development, manifesting during fetal and early infant development, and is usually congenital. Craniosynostosis secondary to metabolic disorders, such as X-linked hypophosphatemia (XLH), is less common and is typically diagnosed later than congenital craniosynostosis. XLH is a rare, progressive, and lifelong hereditary phosphate-wasting disorder characterized by loss of function of the phosphate-regulating endopeptidase homologue, X-linked gene, which is associated with premature fusion of cranial sutures due to abnormal phosphate metabolism (hypophosphatemia) and altered bone mineralization or elevated levels of fibroblast growth factor 23. This targeted literature review of 38 articles seeks to provide an overview of craniosynostosis in individuals with XLH. The objectives of this review are to increase awareness of the prevalence, presentation, and diagnosis of craniosynostosis in XLH; examine the spectrum of craniosynostosis severity in XLH; discuss the management of craniosynostosis in those with XLH; recognize the complications for patients with XLH; and identify what is known about the burden of craniosynostosis for individuals with XLH. The presentation of craniosynostosis in individuals with XLH tends to manifest slightly later than congenital craniosynostosis and can vary in severity and appearance, making diagnosis difficult and resulting in inconsistent clinical outcomes. Consequently, craniosynostosis in patients with XLH is an underreported and potentially underrecognized condition. There have been no studies investigating the effects of craniosynostosis on the quality of life of people with XLH. Despite a growing awareness among researchers and experienced clinicians, there are still improvements to be made in general awareness and timely diagnosis of craniosynostosis in XLH. The XLH community would benefit from further study into the prevalence of craniosynostosis, the effect of XLH medical therapy on the development of craniosynostosis, and the effects of craniosynostosis on quality of life. © 2023 The Authors. JBMR Plus published by Wiley Periodicals LLC on behalf of American Society for Bone and Mineral Research.

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PURPOSE: The aim of this case-control study was to investigate occlusal characteristics, received orthodontic treatment, oral health-related quality of life (OHRQoL), and satisfaction with dental esthetics in adults operated due to sagittal synostosis. METHODS: The study group consisted of 40 adults (25 males, 15 females, mean age 27.4 years, range 18-41) who were operated due to isolated sagittal synostosis in childhood. The control group comprised 40 age and gender-matched adults. Occlusal characteristics were evaluated clinically during study visits. Information on the previous orthodontic treatment was collected from dental records. OHRQoL was measured using the 14-item Oral Health Impact Profile (OHIP-14), and satisfaction with dental esthetics was evaluated using a visual analogue scale. RESULTS: No statistically significant differences were found between the patient group and the controls in malocclusion traits (overjet, overbite, molar relationships, crossbite, scissor bite), previous orthodontic treatment, pre-treatment malocclusion diagnoses, OHIP variables, or satisfaction with dental esthetics. However, there was a tendency toward increased overjet and overbite in scaphocephalic patients. CONCLUSION: It seems that adults with scaphocephaly operated in childhood do not differ from the average population in terms of occlusion, received orthodontic treatment, or oral health-related well-being.

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This paper describes a unique case of craniosynostosis in a female skull in which sagittal sutures were completely fused by adolescence. Despite sagittal synostosis, the skull was of normal shape and size. Regarding craniometric features, the synostotic normocephalic skull was markedly different than that of scaphocephalic skulls which typically result from premature obliteration of the sagittal suture.

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PURPOSE: The foramen magnum (FM) presents various alterations in craniosynostoses, such as brachycephaly or Crouzon syndrome. However, to date, no study has been devoted to its morphology and morphometry in scaphocephaly, which is the most common of cranial deformities resulting from premature fusion of cranial sutures. METHODS: We assessed the morphology and morphometry of FM using preoperative thin-cut CT scans of 107 children with non-syndromic sagittal craniosynostosis aged 1-12 months (mean age 5.38 months). A series of sagittal and transverse dimensions were taken and the FM area was calculated in each case. Obtained data were compared to the age-matched control group of 101 normocephalic children. RESULTS: Dolichotrematous type of FM was dominant in the scaphocephaly group and observed in 63/107 cases (58.9%). The mean FM area in the scaphocephaly group was 519.64 mm2 and was significantly smaller compared to the control group (p = 0.0011). The transverse diameter and anterior sagittal diameter were also significantly smaller (p = 0.0112 and p = 0.0003, respectively). CONCLUSION: The area of FM in scaphocephaly is smaller compared to normal individuals. This is associated with a significant reduction of the width of FM in children with sagittal craniosynostosis. FM in scaphocephaly is larger than in other reported series of children with brachycephaly or Crouzon syndrome.

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Orofaciodigital syndrome (OFD) is clinically heterogeneous and is characterized by abnormalities in the oral cavity, facial features, digits, and central nervous system. At least 18 subtypes of the condition have been described in the literature. OFD is caused by variants in several genes with overlapping phenotypes. We studied a consanguineous Pakistani family with two affected siblings with an atypical form of OFD type 4 (OFD4). In addition to the typical features of OFD4 that include limb defects and growth retardation, the siblings displayed rare features of scaphocephaly and seizures. Exome sequencing analysis revealed a novel homozygous splice site variant c.257-1G>A in TCTN3 that segregated with disease. This homozygous splice site variant in TCTN3 is most likely the underlying cause of the atypical form of OFD4 observed in this family. Our results contribute to the phenotypic spectrum of TCTN3 associated ciliopathies and will facilitate better clinical diagnosis.

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Although most reported cases of minor suture involvement include multiple sutures, isolated suture involvement has been reported. Morphologic differences such as scaphocephaly and anterior plagiocephaly have been reported. Management should involve proper identification and multidisciplinary treatment. Surgical treatment should involve the expansion of the cranial vault as well as the correction of the deformity.

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