Reinterpreting the work of Charles Breder: Sensory neuromasts and orbital skeleton variation in eyeless Astyanax cavefish.

Charles Breder, a pioneering researcher of blind Mexican cavefish was the first to note extreme variation in the facial skeleton of this intriguing subterranean-dwelling organism. Using a system of polar coordinate plots, he identified substantial dysmorphic changes affecting bones of the orbital skeleton. A complication of his landmark publication from 1944 was an error in the number of orbital bones depicted for this species. Intriguingly, however, he proposed an unknown "organizing force" likely influences final bone position and associated dysmorphia. At the time this was merely hypothetical. Roughly eight decades since its publication, however, insights into sensory influences on facial bone development may explain dysmorphia and variation in bone numbers for Astyanax cavefish. A morphological association between mechano-sensory neuromasts of the lateral line and dermal bones of the facial skeleton had been appreciated in the classical literature, but the polarity of this interaction has long remained unclear. Here, we propose that sensory-skeletal integration between sensory neuromasts and bones explain the incomplete numbers of bones, and dysmorphic features such as fusion between neighboring elements. We propose that in closely-related surface fish (and most teleost fish) this developmental coupling enables the sensory and skeletal systems to become integrated into a functional unit over the course of life history. In this opinion article, we discuss the relevance of this (poorly understood) phenomenon as a potential evolutionary source of variation in the facial bone structures of taxa across deep geologic time. We provide three potential explanations for the error in Breder's drawings, that may be explained by natural developmental variation documented in other related species. Moreover, we argue that the natural variation in this "evolutionary" model system is useful for explaining diverse cranial features by uniting aberrations occurring during embryogenesis with long-term adult dysmorphia.

Reassessing the association: Evaluation of a polyalanine deletion variant of RUNX2 in non-syndromic sagittal and metopic craniosynostosis.

The RUNT-related transcription factor RUNX2 plays a critical role in osteoblast differentiation, and alterations to gene dosage cause distinct craniofacial anomalies. Uniquely amongst the RUNT-related family, vertebrate RUNX2 encodes a polyglutamine/polyalanine repeat (Gln23-Glu-Ala17 in humans), with the length of the polyalanine component completely conserved in great apes. Surprisingly, a frequent 6-amino acid deletion polymorphism, p.(Ala84_Ala89)del, occurs in humans (termed 11A allele), and a previous association study (Cuellar et al. Bone 137:115395;2020) reported that the 11A variant was significantly more frequent in non-syndromic sagittal craniosynostosis (nsSag; allele frequency [AF] = 0.156; 95% confidence interval [CI] 0.126-0.189) compared to non-syndromic metopic craniosynostosis (nsMet; AF = 0.068; 95% CI 0.045-0.098). However, the gnomAD v.2.1.1 control population used by Cuellar et al. did not display Hardy-Weinberg equilibrium, hampering interpretation. To re-examine this association, we genotyped the RUNX2 11A polymorphism in 225 individuals with sporadic nsSag as parent-child trios and 164 singletons with sporadic nsMet, restricting our analysis to individuals of European ancestry. We compared observed allele frequencies to the non-transmitted alleles in the parent-child trios, and to the genome sequencing data from gnomAD v.4, which display Hardy-Weinberg equilibrium. Observed AFs (and 95% CI) were 0.076 (0.053-0.104) in nsSag and 0.082 (0.055-0.118) in nsMet, compared with 0.062 (0.042-0.089) in non-transmitted parental alleles and 0.065 (0.063-0.067) in gnomAD v.4.0.0 non-Finnish European control genomes. In summary, we observed a non-significant excess, compared to gnomAD data, of 11A alleles in both nsSag (relative risk 1.18, 95% CI 0.83-1.67) and nsMet (relative risk 1.29, 95% CI 0.87-1.92), but we did not replicate the much higher excess of RUNX2 11A alleles in nsSag previously reported (p = 0.0001).

Brain volume in infants with metopic synostosis: Less white matter volume with an accelerated growth pattern in early life.

Metopic synostosis patients are at risk for neurodevelopmental disorders despite a negligible risk of intracranial hypertension. To gain insight into the underlying pathophysiology of metopic synostosis and associated neurodevelopmental disorders, we aimed to investigate brain volumes of non-syndromic metopic synostosis patients using preoperative MRI brain scans. MRI brain scans were processed with HyperDenseNet to calculate total intracranial volume (TIV), total brain volume (TBV), total grey matter volume (TGMV), total white matter volume (TWMV) and total cerebrospinal fluid volume (TCBFV). We compared global brain volumes of patients with controls corrected for age and sex using linear regression. Lobe-specific grey matter volumes were assessed in secondary analyses. We included 45 metopic synostosis patients and 14 controls (median age at MRI 0.56 years [IQR 0.36] and 1.1 years [IQR 0.47], respectively). We found no significant differences in TIV, TBV, TGMV or TCBFV in patients compared to controls. TWMV was significantly smaller in patients (-62,233 mm3 [95% CI = -96,968; -27,498], Holm-corrected p = 0.004), and raw data show an accelerated growth pattern of white matter in metopic synostosis patients. Grey matter volume analyses per lobe indicated increased cingulate (1378 mm3 [95% CI = 402; 2355]) and temporal grey matter (4747 [95% CI = 178; 9317]) volumes in patients compared to controls. To conclude, we found smaller TWMV with an accelerated white matter growth pattern in metopic synostosis patients, similar to white matter growth patterns seen in autism. TIV, TBV, TGMV and TCBFV were comparable in patients and controls. Secondary analyses suggest larger cingulate and temporal lobe volumes. These findings suggest a generalized intrinsic brain anomaly in the pathophysiology of neurodevelopmental disorders associated with metopic synostosis.

A novel missense mutation in the MECOM gene in a Chinese boy with radioulnar synostosis with amegakaryocytic thrombocytopenia.

Radioulnar synostosis with amegakaryocytic thrombocytopenia (RUSAT) type 2, caused by MDS1 and EVI1 complex locus (MECOM) gene mutations, is a rare inherited bone marrow failure syndrome (IBMFS) with skeletal anomalies, characterized by varying presentation of congenital thrombocytopenia (progressing to pancytopenia), bilateral proximal radioulnar synostosis, and other skeletal abnormalities. Due to limited knowledge and heterogenous manifestations, clinical diagnosis of the disease is challenging. Here we reported a novel MECOM mutation in a Chinese boy with typical clinical features for RUSAT-2. Trio-based whole exome sequencing of buccal swab revealed a novel heterozygous missense mutation in exon 11 of the MECOM gene (chr3:168818673; NM_001105078.3:c.2285G > A). The results strongly suggest that the variant was a germline mutation and disease-causing mutation. The patient received matched unrelated donor hematopoetic stem cell transplantation (HSCT). This finding was not only expanded the pathogenic mutation spectrum of MECOM gene, but also provided key information for clinical diagnosis and treatment of RUSAT-2.

Surgical strategy in treatment of metopic synostosis in a single centre experience: technical note and quantitative analysis of the outcomes.

PURPOSE: Trigonocephaly is the most common craniosynostosis involving orbits. Although some degree of agreement has been reached regarding surgical timing and indications for treatment, there is no consensus regarding the ideal operative technique to guarantee an optimal morphological outcome. The purpose of this study is to describe both strategies and to compare morphological outcomes by means of morphological surface analysis obtained from three-dimensional (3D) stereophotogrammetry, with two different techniques. METHODS: We retrospectively investigated 43 patients with metopic synostosis surgically treated between 2004 and 2020. Two different techniques were applied, addressed as technique A and B. Ten patients undergone postoperative 3d stereophotogrammetry were enrolled, and cephalometric measurements were taken and compared to a cohort of unaffected patients matched by age and gender. RESULTS: Comparison of the groups demonstrated a hypercorrection of the metopic angle of the second technique, associated with a slightly lower correction of the interfrontoparietal diameter. The metopic angle showed to be significantly undercorrected with the first method. CONCLUSIONS: Alternated barrel staving technique appears to be a quick and satisfactory method in cranial remodelling for metopic synostosis. It guarantees an optimal aesthetic result in the first years after surgery.

Efficacy and safety of sagittal synostosis surgery in older (> 12 months) patients: a systematic review and meta-analysis.

PURPOSE: Sagittal synostosis is the most common isolated craniosynostosis. Surgical treatment of this synostosis has been extensively described in the global literature, with promising outcomes when it is performed in the first 12 months of life. However, in some cases, patients older than 12 months arrive at the craniofacial center with this synostosis. A comprehensive study on efficacy and perioperative outcomes has yet to be fully explored in this population. This systematic review and meta-analysis aimed to assess the available evidence of surgical outcomes for the treatment of sagittal synostosis among older patients to analyze the efficacy and safety of synostosis surgery in this unique population. METHODS: PubMed, Embase, and Scopus were searched for studies published from inception to March 2024 reporting surgical outcomes of synostosis surgery in older patients (> 12 months) with isolated sagittal synostosis. The main outcome was the reoperation rate, with secondary endpoints including transfusion rates, aesthetic outcomes, and surgical complications. RESULTS: Nine studies were included in the final analysis. The pooled proportion of the reoperation rate was 1%. The rate of excellent aesthetic results was 95%. The need for transfusion associated with the procedures was 86%, and finally, surgical complications attained a pooled ratio of 2%, indicating minimal morbidity associated with the surgical repair. CONCLUSION: Sagittal synostosis surgery is a safe and effective procedure to perform in older patients; this meta-analysis suggests that open surgery confers a significant rate of excellent aesthetic results with a low reoperation rate and minimal complications associated with the intervention. Future research with direct comparisons among different techniques will validate the findings of this study, which will all contribute to the rigor of synostosis management.

Secondary metopic craniosynostosis after posterior cranial decompression in cloverleaf skull deformity.

Cloverleaf skull deformity or Kleeblattschadel syndrome is a severe condition where multiple cranial sutures are absent and prematurely fused, leading to a trilobate head shape. The remaining open sutures or fontanelles compensate for rapid brain expansion, while the constricted fused calvarium restricts brain growth and results in increased intracranial pressure. Recent data show that early posterior cranial and foramen magnum decompression positively affects infants with cloverleaf skulls. However, long-term sequelae are still rarely discussed. We hereby report a child who developed secondary metopic craniosynostosis after posterior cranial decompression, which required a front-orbital advancement and cranial remodelling as a definitive procedure.

Helmet therapy efficacy and its prediction in Japanese infants with positional plagio- and brachycephaly.

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.

Correction of Congenital Ring-Little Finger Metacarpal Synostosis Through Simultaneous Interpositional Allograft Bone After Split Osteotomy of the Synostosis Site and Distraction Lengthening of the Fifth Metacarpal.

PURPOSE: We attempted a technique for patients with congenital ring-little finger metacarpal synostosis involving simultaneous interpositional allograft bone after split osteotomy of the synostosis site and distraction lengthening of the fifth metacarpal along with correction of the metacarpal joint abduction contracture. The purpose of this study was to describe the surgical technique and its outcomes. METHODS: We reviewed the medical records of children with congenital ring-little finger metacarpal synostosis treated surgically at our institute. Eight hands of six children with an average age of 5.0 (range, 1.7-9.3) years were treated by simultaneous interpositional allograft bone after split osteotomy, distraction lengthening, and tenotomy of abductor digiti minimi. We measured the metacarpal head-to-capitate area ratios from serial radiographs and analyzed them according to age. We also measured the change in the intermetacarpal angle (IMA) and metacarpal length ratio during an average of 8.1 (range, 1.4-16.8) years of follow-up. These changes were compared with changes in seven hands of five children with an average age of 8.1 (range, 1.5-15.6) years treated by the same method, but without a distraction lengthening of the fifth metacarpal and followed up for an of average 12.1 (range, 4.1-19.8) years, as a control group. RESULTS: Abnormal metacarpal head-to-capitate area ratio before surgery was normalized in all patients within the first 2 years after surgery. The IMA change averaged 39.8°, and the metacarpal length ratio changed by 17%. The control group showed an average IMA change of 36.6° and metacarpal length ratio change of 6%. CONCLUSIONS: Simultaneous interpositional allograft bone after split osteotomy of the synostosis site and distraction lengthening of the fifth metacarpal with correction of metacarpal joint abduction contracture can restore the radiographic parameters in congenital ring-little finger metacarpal synostosis. The normalized ossification of the fifth metacarpal head indicates that the surgical procedure is probably safe. TYPE OF STUDY/LEVEL OF EVIDENCE: Therapeutic V.

Shared Decision-Making: Process for Design and Implementation of a Decision Aid for Patients With Craniosynostosis.

To describe the process of developing a craniosynostosis decision aid.We conducted a mixed-methods exploratory study between August 2019 and March 2020 to develop a decision aid about surgical treatment for single suture craniosynostosis.A single tertiary care academic children's hospital.The decision aid development team consisted of surgeons, research fellows, a clinical nurse practitioner, clinical researchers with expertise in decision science, and a university-affiliated design school. Qualitative interviews (N = 5) were performed with families, clinicians (N = 2), and a helmeting orthotist to provide feedback on decision aid content, format, and usability.After cycles of revisions and iterations, 3 related decision aids were designed and approved by the marketing arm of our institution. Distinct booklets were created to enable focused discussion of treatment options for the 3 major types of single suture craniosynostosis (sagittal, metopic, unicoronal).Three decision aids representing the 3 most common forms of single suture craniosynostosis were developed. Clinicians found the decision aids could help facilitate discussions about families' treatment preferences, goals, and concerns.We developed a customizable decision aid for single suture craniosynostosis treatment options. This tool lays the foundation for shared decision-making by assessing family preferences and providing clear, concise, and credible information regarding surgical treatment. Future research can evaluate this tool's impact on patient-clinician discussions about families' goals and preferences for treatment.

FGF9 variant in 46,XY DSD patient suggests a role for dimerization in sex determination.

46,XY gonadal dysgenesis (GD) is a Disorder/Difference of Sex Development (DSD) that can present with phenotypes ranging from ambiguous genitalia to complete male-to-female sex reversal. Around 50% of 46,XY DSD cases receive a molecular diagnosis. In mice, Fibroblast growth factor 9 (FGF9) is an important component of the male sex-determining pathway. Two FGF9 variants reported to date disrupt testis development in mice, but not in humans. Here, we describe a female patient with 46,XY GD harbouring the rare FGF9 variant (missense mutation), NM_002010.2:c.583G > A;p.(Asp195Asn) (D195N). By biochemical and cell-based approaches, the D195N variant disrupts FGF9 protein homodimerisation and FGF9-heparin-binding, and reduces both Sertoli cell proliferation and Wnt4 repression. XY Fgf9D195N/D195N foetal mice show a transient disruption of testicular cord development, while XY Fgf9D195N/- foetal mice show partial male-to-female gonadal sex reversal. In the general population, the D195N variant occurs at an allele frequency of 2.4 × 10-5 , suggesting an oligogenic basis for the patient's DSD. Exome analysis of the patient reveals several known and novel variants in genes expressed in human foetal Sertoli cells at the time of sex determination. Taken together, our results indicate that disruption of FGF9 homodimerization impairs testis determination in mice and, potentially, also in humans in combination with other variants.

Expanded phenotypic and hematologic abnormalities beyond bone marrow failure in MECOM-associated syndromes.

The MECOM gene encodes multiple protein isoforms that are essential for hematopoietic stem cell self-renewal and maintenance. Germline MECOM variants have been associated with congenital thrombocytopenia, radioulnar synostosis and bone marrow failure; however, the phenotypic spectrum of MECOM-associated syndromes continues to expand and novel pathogenic variants continue to be identified. We describe eight unrelated patients who add to the previously known phenotypes and genetic defects of MECOM-associated syndromes. As each subject presented with unique MECOM variants, the series failed to demonstrate clear genotype-to-phenotype correlation but may suggest a role for additional modifiers that affect gene expression and subsequent phenotype. Recognition of the expanded hematologic and non-hematologic clinical features allows for rapid molecular diagnosis, early identification of life-threatening complications, and improved genetic counseling for families. A centralized international publicly accessible database to share annotated MECOM variants would advance their clinical interpretation and provide a foundation to perform functional MECOM studies.

Early and long-term skull growth after surgical correction for sagittal synostosis in relation to the occurrence of papilledema.

OBJECTIVE: Stagnation of skull growth is correlated with papilledema in craniosynostosis. In this retrospective cohort study, we describe the postoperative skull growth after surgical correction for sagittal synostosis and its relation to the development of papilledema. METHODS: Patients with isolated sagittal synostosis at our center between 2005 and 2012 were included. Occipitofrontal circumference (OFC) was analyzed, at 3 time points (preoperative, 2 years postoperative, and last OFC measurement) and 3 phases (initial postoperative growth, long-term growth, and overall growth), and related to papilledema on fundoscopy. RESULTS: In total, 163 patients were included. The first time interval showed a decline in skull growth, with subsequent stabilization at long term. Papilledema occurred postoperatively in 10 patients. In these patients, the OFC at 2 years and at last follow-up (T3) were significantly smaller than in patients without papilledema. A larger OFC resulted in a decreased odds of developing papilledema at both postoperative time points (at T2 (OR = 0.40, p = 0.01) and at T3 (OR 0.29, p < 0.001)). Sensitivity and specificity analysis indicated that an OFC below 0.25 SD at T2 (sensitivity 90%, specificity 65%) and below 0.49 at T3 (sensitivity 100%, specificity 60%) are related to the occurrence of papilledema. CONCLUSION: A small OFC is correlated with the occurrence of papilledema. A decline in OFC within 2 years postoperatively is common in sagittal synostosis and is acceptable up to a value of 0.25SD. Patients with an OFC at last follow-up of less than 0.5SD are at risk for developing papilledema.

The Boyd approach: a valuable alternative to treating simple to complex elbow fractures and dislocations.

BACKGROUND: The Boyd approach is a single-incision posterior approach to the proximal radius and ulna based on a lateral anconeus muscle reflection and release of the lateral collateral ligamentous complex. This approach remains a lesser-used technique following early reports of proximal radioulnar synostosis and postoperative elbow instability. Although limited by small case series, recent literature does not support these early reported complications. This study presents a single surgeon's outcomes using the Boyd approach for the treatment of simple to complex elbow injuries. METHODS: Following institutional review board approval, a retrospective review of all patients with simple to complex elbow injuries treated consecutively using a Boyd approach by a shoulder and elbow surgeon was conducted from 2016 to 2020. All patients with at least 1 postoperative clinic visit were included. Data collected included patient demographics, injury description, postoperative complications, elbow range of motion, and radiographic findings including heterotopic ossification and proximal radioulnar synostosis. Categorical and continuous variables were reported using descriptive statistics. RESULTS: A total of 44 patients were included with an average age of 49 years (range 13-82 years). The most commonly treated injuries were Monteggia fracture-dislocations (32%) and terrible triad injuries (18%). Average follow-up was 8 months (range 1-24 months). Final average elbow active arc of motion was from 20° (range 0°-70°) of extension to 124° (range 75°-150°) of flexion. Final supination and pronation were 53° (range 0°-80°) and 66° (range 0°-90°), respectively. There were no cases of proximal radioulnar synostosis. Heterotopic ossification contributing to less than functional elbow range of motion occurred in 2 (5%) patients who elected conservative management. There was 1 (2%) case of early postoperative posterolateral instability due to repair failure of injured ligaments that required revision using a ligament augmentation procedure. Five (11%) patients experienced postoperative neuropathy, including 4 (9%) with ulnar neuropathy. Of these, 1 underwent ulnar nerve transposition, 2 were improving, and 1 had persistent symptoms at final follow-up. CONCLUSIONS: This is the largest case series available demonstrating the safe utilization of the Boyd approach for the treatment of simple to complex elbow injuries. Postoperative complications including synostosis and elbow instability may not be as common as previously understood.

Preoperative radius head dislocation affects forearm rotation after mobilization of congenital radioulnar synostosis.

BACKGROUND: The present study was carried out to answer three questions: 1) How much forearm rotation can be expected after mobilization of congenital radioulnar synostosis (CRUS)? 2) Does preoperative radius head dislocation affect forearm rotation after mobilization? 3) What factors other than radius head dislocation affect postoperative forearm rotation? METHODS: We performed mobilization of CRUS with a free vascularized fascio-fat graft and a radius osteotomy (Kanaya's procedure) on 26 forearms of 25 patients. The age at the surgery ranged from 5.3 to 13.4 years. The follow-up duration ranged 24-111 months. We classified CRUS into 3 groups according to the dislocation of the radius head: posterior dislocation (N = 13), anterior dislocation (N = 9) and no dislocation (N = 4). Since major complaints of patients and parents were poor forearm rotation and lack of supination, they were evaluated separately. RESULTS: Mean preoperative forearm ankylosis angle was 34.8° (range; neutral to 90° pronation). Preoperative pronation ankylosis angle was higher in the posterior dislocation group (mean 55.3°) than the anterior dislocation (mean 11.6°) and no dislocation groups (mean 5.0°). There was no re-ankylosis after mobilization and the mean postoperative active range of motion (ROM) was 86.5°. The mean active ROM was 75.7° in the posterior dislocation group, 96.1° in anterior dislocation group and 100.0° in no dislocation group. The mean active supination was 6.9, 33.9 and 47.5° respectively. The posterior dislocation group showed less ROM and less supination than other groups. Preoperative pronation ankylosis angle showed negative correlation with postoperative ROM (ρ = - 0.59) and postoperative supination (ρ = - 0.73). CONCLUSION: The mean postoperative active ROM of this mobilization was 86.5°. Posterior dislocation group showed higher pronation ankylosis angle preoperatively, and less postoperative ROM and less supination than anterior and no dislocation groups. Preoperative pronation ankylosis angle showed negative correlation with postoperative ROM and supination.

YouTube as a Source of Patient Education for Transcranial Craniosynostosis Procedures.

INTRODUCTION: The internet has improved access to knowledge, with a reported 72% of internet users accessing health information online. YouTube is the most popular video-sharing website and is a frequently accessed source for health information. There are concerns, however, that patients and carers may be unable to identify and filter for trustworthy sources of information on these platforms. This study aimed to assess the quality of videos that are likely to be accessed when families search YouTube for transcranial procedures for the management of craniosynostosis. METHODOLOGY: This was a cross-sectional, observational study that evaluated YouTube videos when searching for "fronto-orbital advancement" or "cranial vault remodeling." The first 25 videos for each term were included. Videos were assessed for quality using the previously validated JAMA and DISCERN scoring tools. RESULTS: There was low interobserver variability for the scoring tools used. There was no statistically significant correlation between the video quality and any video characteristics assessed. Videos published by organizations had higher mean quality scores for both the JAMA and DISCERN tools when compared to surgeon, patient, or medical device company-produced videos. CONCLUSION: This study showed that searching YouTube for fronto-orbital advancement and cranial vault remodeling yields videos of low quality and therefore patients and carers should be discouraged from "YouTube-ing" these procedures. Platforms such as YouTube may provide an opportunity for craniofacial units to create and disseminate high-quality educational videos to complement routine perioperative education.

The Clinical Significance of Clinocephaly in Late-Presentation Sagittal Craniosynostosis.

The diagnosis of late-presentation sagittal suture craniosynostosis (SCS) can be challenging, especially in the setting of subtle physical exam findings. The clinical significance of clinocephaly-a retro-coronal concavity along the midvault-in this context remains unknown. The aim of this study is to evaluate the predictive value of clinocephaly in identifying late-presentation SCS.A retrospective chart review of all patients >1 year old presenting to the craniofacial clinic with a concern for SCS was performed. The presence or absence of SCS in the setting of clinocephaly was recorded following diagnostic imaging. Student's t test, Chi Square test, and multivariate logistic regression analysis were performed to determine predictors for SCS.75 patients met inclusion criteria. 32 patients (42.7%, 6% female) were diagnosed with SCS. No difference in age between patients with and without SCS was detected. Stratification of patients by age (1-2, 2-4, and >4 years) revealed a higher rate of SCS in younger patients (P = 0.04). The cephalic index (C.I.) of those with sagittal synostosis was significantly smaller but within the normal range, indicating a more scaphocephalic shape (P = 0.003). Logistic regression analysis revealed that C.I. was a strong predictor for SCS (P = 0.003). Of those with SCS, a mix of complete and partial fusion of the sagittal suture was appreciated.This study found that 42.7% of patients with clinocephaly had SCS. C.I. was the only predictor for SCS and unique suture fusion patterns were identified in those with SCS. This study suggests that clinocephaly should be considered a core component of the exam and work-up for SCS. Future studies aimed at evaluating the positive predictive value of this exam finding and identifying risk factors associated with late-presentation SCS are underway.

A Case of Nonsyndromic Craniosynostosis in an Infant Child of Jehovah's Witness Parents: Is Surgical Correction Appropriate?

An infant with nonsyndromic craniosynostosis is brought to clinic by his Jehovah's Witness parents to discuss treatment. Five potential courses of action are discussed in the context of biomedical ethics principles. The potential conflict between parents' autonomy to make decisions for their child and the surgeon's ethical duty of beneficence to the patient is explored.

Squamosal Suture Synostosis: An Under-Recognized Phenomenon.

INTRODUCTION: The squamosal suture (SQS) joins the temporal to the parietal bones bilaterally and is a poorly described site of craniosynostosis. SQS fusion is thought to occur as late as the fourth decade of life and beyond; however, we have incidentally noted its presence among our pediatric patients and hypothesize that it may occur earlier in life and more frequently than previously believed. METHODS: A retrospective review of imaging performed on pediatric patients was completed to identify patients with SQS synostosis. This included a review of clinical notes as well as computed tomography (CT) images obtained by our craniofacial clinic. Relevant patient data and imaging were reviewed. RESULTS: Forty-seven patients were identified with SQS synostosis, 21 were female (45%). Age at the time of radiographic diagnosis was 10.1 ± 8.4 years (range 17 days to 27 years). A majority of patients had bilateral SQS synostosis (57%), with a relatively even distribution of unilateral right (23%) versus left (19%). SQS was an isolated finding (no other suture involvement) in 15 patients (32%), all of whom were normocephalic and did not require surgical intervention. Thirty-two patients (68%) had concomitant craniosynostosis of other sutures, most commonly sagittal and coronal. Nine patients (19%) underwent surgery to correct cranial malformations-all these patients had multi-suture synostosis (P = 0.012). Twenty-seven patients (57%) had SQS synostosis diagnosed incidentally compared to 20 (43%) who were imaged with suspicion for synostosis. In those who were symptomatic, common findings included developmental delay, elevated intracranial pressure, hydrocephalus, seizures, and visual/hearing impairments. Ten patients (21%) were syndromic, the most frequent of which was Crouzon syndrome. No single pattern of calvarial malformation could be definitively described for SQS synostosis. CONCLUSION: Given that most isolated SQS synostosis cases were normocephalic, asymptomatic, and discovered incidentally, it is likely that there are many cases of unidentified SQS synostosis. The significance of SQS synostosis is currently unclear, and warrants further investigation into this phenomenon, its natural course, and its potential presence in the spectrum of normal development.

3D Photography to Quantify the Severity of Metopic Craniosynostosis.

This study aims to determine the utility of 3D photography for evaluating the severity of metopic craniosynostosis (MCS) using a validated, supervised machine learning (ML) algorithm.This single-center retrospective cohort study included patients who were evaluated at our tertiary care center for MCS from 2016 to 2020 and underwent both head CT and 3D photography within a 2-month period.The analysis method builds on our previously established ML algorithm for evaluating MCS severity using skull shape from CT scans. In this study, we regress the model to analyze 3D photographs and correlate the severity scores from both imaging modalities.14 patients met inclusion criteria, 64.3% male (n = 9). The mean age in years at 3D photography and CT imaging was 0.97 and 0.94, respectively. Ten patient images were obtained preoperatively, and 4 patients did not require surgery. The severity prediction of the ML algorithm correlates closely when comparing the 3D photographs to CT bone data (Spearman correlation coefficient [SCC] r = 0.75; Pearson correlation coefficient [PCC] r = 0.82).The results of this study show that 3D photography is a valid alternative to CT for evaluation of head shape in MCS. Its use will provide an objective, quantifiable means of assessing outcomes in a rigorous manner while decreasing radiation exposure in this patient population.