Can Craniosynostosis be Diagnosed on Physical Examination? A Retrospective Review.

Craniosynostosis is a developmental craniofacial defect in which one or more sutures of the skull fuse together prematurely. Uncorrected craniosynostosis may have serious complications including elevated intracranial pressure, developmental delay, and blindness. Proper diagnosis of craniosynostosis requires a physical examination of the head with assessment for symmetry and palpation of sutures for prominence. Often, if craniosynostosis is suspected, computed tomography (CT) imaging will be obtained. Recent literature has posited that this is unnecessary. This study aims to address whether physical examination alone is sufficient for the diagnosis and treatment planning of single suture craniosynostosis. Between 2015 and 2022, the Divisions of Pediatric Neurosurgery and Pediatric Plastic Surgery at UTHealth Houston evaluated 140 children under 36 months of age with suspected craniosynostosis by physical examination and subsequently ordered CT imaging for preoperative planning. Twenty-three patients received a clinical diagnosis of multi-sutural or syndromic craniosynostosis that was confirmed by CT. One hundred seventeen patients were diagnosed with single suture craniosynostosis on clinical examination and follow-up CT confirmed suture fusion in 109 (93.2%) patients and identified intracranial anomalies in 7 (6.0%) patients. These patients underwent surgical correction. Eight (6.8%) patients showed no evidence of craniosynostosis on CT imaging. Treatment for patients without fused sutures included molding helmets and observation alone. This evidence suggests that physical examination alone may be inadequate to accurately diagnose single suture synostosis, and surgery without preoperative CT evaluation could lead to unindicated procedures.

A Systematic Review of Idiopathic Secondary Stenosis Following Index Surgery for Craniosynostosis.

BACKGROUND: Primary craniosynostosis is a congenital craniofacial disorder in which cranial sutures prematurely close. Iatrogenic secondary stenosis is abnormal cranial suture closure caused by surgical manipulation of the suture. In contrast, idiopathic secondary stenosis develops in a suture that did not undergo surgical manipulation. The objective of this systematic review was to consolidate and characterize the incidence, classification, and management of idiopathic secondary stenosis in the literature. METHODS: Literature from PubMed, Web Of Science, and EMBASE from 1970 to March 2022 was reviewed. The following information was extracted for individual patients: incidence of idiopathic secondary stenosis, index primary craniosynostosis, primary surgical correction, presenting signs of secondary stenosis, management, and further complications. RESULTS: Seventeen articles detailing 1181 patients were included. Ninety-one developed idiopathic secondary stenosis (7.7%). Only 3 of these patients were syndromic. The most common index craniosynostosis was sagittal synostosis (83.5%). The most common suture undergoing idiopathic secondary stenosis was the coronal suture (91.2%). Patients presented at a median age of 24 months. The most common presenting sign was a radiologic finding (85.7%), although some patients presented with headache or head deformity. Only 2 patients, both syndromic, had complications following surgical correction of secondary stenosis. CONCLUSIONS: Idiopathic secondary stenosis is a rare, long-term complication following index surgical repair of craniosynostosis. It can occur following any surgical technique. It most commonly affects the coronal suture but can affect any of the sutures, including pansynostosis. Surgical correction is curative in nonsyndromic patients.

Transcriptomic Signatures of Single-Suture Craniosynostosis Phenotypes.

Craniosynostosis is a birth defect where calvarial sutures close prematurely, as part of a genetic syndrome or independently, with unknown cause. This study aimed to identify differences in gene expression in primary calvarial cell lines derived from patients with four phenotypes of single-suture craniosynostosis, compared to controls. Calvarial bone samples (N = 388 cases/85 controls) were collected from clinical sites during reconstructive skull surgery. Primary cell lines were then derived from the tissue and used for RNA sequencing. Linear models were fit to estimate covariate adjusted associations between gene expression and four phenotypes of single-suture craniosynostosis (lambdoid, metopic, sagittal, and coronal), compared to controls. Sex-stratified analysis was also performed for each phenotype. Differentially expressed genes (DEGs) included 72 genes associated with coronal, 90 genes associated with sagittal, 103 genes associated with metopic, and 33 genes associated with lambdoid craniosynostosis. The sex-stratified analysis revealed more DEGs in males (98) than females (4). There were 16 DEGs that were homeobox (HOX) genes. Three TFs (SUZ12, EZH2, AR) significantly regulated expression of DEGs in one or more phenotypes. Pathway analysis identified four KEGG pathways associated with at least one phenotype of craniosynostosis. Together, this work suggests unique molecular mechanisms related to craniosynostosis phenotype and fetal sex.

Craniofacial reconstructions in children with craniosynostosis.

BACKGROUND: Craniosynostosis is a rare congenital disease of the skull. They arise when one or more cranial sutures ossify prematurely. This causes an obstruction to normal brain growth and leads to specific deformations of the skull, which may result in intracranial hypertension and cognitive delay. MATERIALS AND METHODS: We have retrospectively analysed all children treated at the Unit of paediatric neurosurgery of the University Medical Centre Ljubljana between June 2015 and September 2020. The following items have been recorded: affected suture, underlying syndromic condition, hydrocephalus, Chiari malformation, raised intracranial pressure, age at surgery, surgical technique, need for multiple operations and surgical complications. RESULTS: During the study period, 71 children have been treated for craniosynostosis. The median postoperative follow-up was 31 months. There were: 54.9% sagittal, 25.3% metopic, 14.0% unicoronal, 1.4% bicoronal and 1.4% unilateral lambdoid craniosynostosis. Multiple sutures were affected in 2.8% cases. 7.0% of the cases were syndromic. Overall, 74 surgical procedures have been performed: frontoorbital advancement represented 40.5% of them; biparietal remodelling 32.4%: total cranial vault remodelling 22.9%; posterior distraction 2.7%; posterior expansion 1.3%. Median age at surgery was 12.8 months. CONCLUSIONS: The treatment of craniosynostosis is surgical and requires a multidisciplinary approach, with expertise in plastic and reconstructive surgery, maxillofacial surgery and neurosurgery. The aim of surgical treatment is to release the constrictive and deformative effect that the synostosis has on skull growth. This requires a remodelling of the neurocranium and, if necessary, of the viscerocranium. Beyond aesthetic purposes, the primary aim of surgical treatment is to permit a normal development of the brain.

Scaphocephaly and increased intra-cranial pressure in non-operated adults: A controlled anthropological study on 21 skulls.

AIM AND SCOPE: The prevalence of increased intra-cranial pressure (ICP) in patients with scaphocephaly is controversial. Here, based on anthropological material, we aimed to determine whether adults with non-operated sagittal synostosis show indirect signs of increased ICP. MATERIALS AND METHODS: Thirty-eight dry skulls (21 skulls with sagittal craniosynostosis and 17 controls) were selected from the collections of the National Museum of Natural History (Paris, France). All skulls registered as 'fused sagittal suture' or 'scaphocephaly' in the registry of the Museum were included. All had total fusion of the sagittal suture. Controls were selected within skulls of similar origin (France), without visible craniofacial anomalies. The 38 skulls were CT-scanned using a standard medical CT-scan with a protocol dedicated to dry bone imaging. Eight radiological signs associated with raised ICP were assessed: (1) calvaria and (2) skull base thinning, (3) dorsum sellae erosion, (4) sella turcica lengthening, (5) copper beaten skull, (6) suture diastasis, (7) persistent metopic suture, and (8) small frontal sinus. Scaphocephaly was assessed based on head circumference, cranial index, intra-cranial volume, fronto-nasal angle, and inter-zygomatic distance. Linear and non-linear logistic models were used to compare groups. RESULTS: 19/21 skulls with sagittal synostosis were significantly scaphocephalic. None of the criteria for ICP were significantly different in skulls with scaphocephaly relative to controls. Nevertheless, 5 individual skulls with scaphocephaly had ≥ 3 signs in favor of a history of raised ICP. We do not report the significant prevalence of indirect signs of raised ICP in adults with scaphocephaly. These results do not allow ruling out a history of early raised ICP or of minor prolonged raised ICP. Even though our findings support the fact that scaphocephaly is not significantly associated with prolonged raised ICP, individual cases (5/21) with clear signs in favor of a history of brain compression indicate that scaphocephaly correction should be considered as a functional procedure until the production of clear evidence. Cognitive assessments of non-operated adult patients with scaphocephaly could contribute to tackle this recurring question in craniofacial surgery.

Closure times of neurocranial sutures and synchondroses in Persian compared to Domestic Shorthair cats.

Human-directed selective breeding has modified the phenotype of the modern Persian cat towards an extreme brachycephalic phenotype ('peke-face' Persian), which originates from a spontaneous mutation that first appeared in the 1950s in traditional Persian types. It was suggested that the peke-face phenotype results from pathologic skull development and might represent a craniosynostosis of the coronal sutures. We followed this hypothesis and investigated the time dependent status of the neurocranial sutures and synchondroses in an ontogenetic series of doll-faced and peke-faced Persian cats compared to Domestic Shorthair cats (DSHs). Cranial suture closure was assessed by examining an ontogenetic series of formalin-fixed head specimens (n = 55) and dry skulls (n = 32) using micro-computed tomography. Sagittal, metopic, coronal and lambdoid sutures as well as intersphenoidal, spheno-occipital and spheno-ethmoid synchondroses were examined. Logistic regression analysis was performed to test the global effect of age on suture closure within a group of peke-face Persians, doll-face Persians and DSHs and the 50% probability of having a closed suture was calculated and compared between groups. Age was a perfect predictor for the condition of the coronal sutures in peke-face Persians. Coronal sutures were found to be closed at 0-0.3 months. In doll-face and DSHs, coronal sutures were open throughout the lifetime with the exception of a few very old cats. Results of this study confirmed a coronal craniosynostosis that likely causes the extreme brachycephalic skull morphology in the peke-face Persian.

Quantitative Morphologic Analysis of Cranial Vault in Twist1+/- Mice: Implications in Craniosynostosis.

BACKGROUND: The haploinsufficiency in the TWIST1 gene encoding a basic helix-loop-helix transcription factor is a cause of one of the craniosynostosis syndromes, Saethre-Chotzen syndrome. Patients with craniosynostosis usually require operative release of affected sutures, which makes it difficult to observe the long-term consequence of suture fusion on craniofacial growth. METHODS: In this study, we performed quantitative analysis of morphologic changes of the skull in Twist1 heterozygously-deleted mice (Twist1+/-) with micro-computed tomographic images. RESULTS: In Twist1+/- mice, fusion of the coronal suture began before postnatal day 14 and progressed until postnatal day 56, during which morphologic changes occurred. The growth of the skull was not achieved by a constant increase in the measured distances in wild type mice; some distances in the top-basal axis were decreased during the observation period. In the Twist1+/- mouse, growth in the top-basal axis was accelerated and that of the frontal cranium was reduced. In the unicoronal suture fusion mouse, the length of the zygomatic arch of affected side was shorter in the Twist1+/- mouse. In one postnatal day 56 Twist1+/- mouse with bilateral coronal suture fusion, asymmetric zygomatic arch length was identified. CONCLUSION: The authors'results suggest that measuring the length of the left and right zygomatic arches may be useful for early diagnosis of coronal suture fusion and for estimation of the timing of synostosis, and that more detailed study on the growth pattern of the normal and the synostosed skull could provide prediction of the risk of resynostosis. CLINICAL RELEVANCE STATEMENT: The data from this study can be useful to better understand the cranial growth pattern in patients with craniosynostosis.

Sagittal Synostosis and Its Association With Cognitive, Behavioral, and Psychological Functioning: A Meta-analysis.

Importance: Findings on the cognitive, behavioral, and psychological functioning of individuals with sagittal synostosis (SS) are highly disparate, limiting their clinical utility. Objective: To identify and review research on individuals with SS and to determine whether, and to what extent, they experience cognitive, behavioral, and psychological difficulties compared with their healthy peers or normative data for each measure. Data Sources: PubMed, Scopus, Embase, and PsycINFO were searched through January 2021 with no date restrictions. Scopus citation searches and manual checks of the reference lists of included studies were conducted. Study Selection: Studies included participants of any age who had received a diagnosis of single-suture (isolated or nonsyndromic) SS or scaphocephaly and who had been assessed on cognitive, behavioral, and psychological outcomes. Data Extraction and Synthesis: Data were independently extracted by 2 reviewers. Case-control outcomes (individuals with SS vs healthy peers or normative data) were compared using random-effects models with 3 effect sizes calculated: weighted Hedges g (gw), odds ratios (ORs), and mean prevalence rates. This study follows the Meta-analysis of Observational Studies in Epidemiology (MOOSE) reporting guidelines. Main Outcomes and Measures: Findings were categorized by surgical status (conservatively managed, presurgery, postsurgery, or combined); domain (eg, general cognition); type of cognitive, behavioral, or psychological measure (objective or subjective); and source of comparison data (peers or normative data). Results: Data from 32 studies, involving a pooled sample of 1422 children and adults with SS (mean [SD] age at assessment, 5.7 [6.6] years; median [interquartile range] age, 3.3 [0.5-10.3] years), were analyzed. Data on sex were available for 824 participants, and 642 (78%) were male. Individual study results varied substantially. Objective tests identified significant moderate group differences on 3 of 16 examined domains: presurgical motor functioning (3 studies; gw = -0.42; 95% CI, -0.67 to -0.18; P < .001), postsurgical short-term memory (2 studies; gw = -0.45; 95% CI, -0.72 to -0.17; P < .001), and postsurgical visuospatial ability (6 studies; gw = 0.31; 95% CI, 0.18 to 0.44; P < .001). Prevalence estimates and ORs varied widely, with 15 studies showing prevalence estimates ranging from 3% to 37%, and 3 studies showing ORs ranging from 0.31 (95% CI, 0.01 to 6.12) for processing speed in the conservatively managed sample to 4.55 (95% CI, 0.21 to 98.63) for postsurgical visuospatial abilities. Conclusions and Relevance: In this meta-analysis, findings for the functioning of participants with SS were highly disparate and often of low quality, with small samples sizes and control groups rarely recruited. Nonetheless, the findings suggest that some individuals with SS experience negative outcomes, necessitating routine assessment.

Craniosynostosis: Clinical Presentation, Genetics, and Prenatal Diagnosis.

IMPORTANCE: Craniosynostosis is a fetal condition caused by premature closure of the cranial sutures. Through provider awareness, we can raise suspicion in high-risk individuals, increase prenatal detection, optimize genetic testing, perform appropriate antenatal surveillance and delivery planning, and allow for a comprehensive, multidisciplinary approach to treatment. OBJECTIVE: The aim of this study was to review what is currently known regarding the genetics, pathophysiology, diagnosis, and treatment of craniosynostosis for the obstetric care provider. EVIDENCE ACQUISITION: A comprehensive literature review was performed using the PubMed database with the search term "craniosynostosis." The search was limited to the English language. RESULTS: A total of 220 articles were identified, and a total of 53 were used in completion of this article. The results highlight the multiple factors involved with abnormal suture formation, including various genetic factors. Although rare at this time, prenatal detection can allow families to prepare and practitioners to provide appropriate clinical treatment. Both 3-dimensional sonography and magnetic resonance imaging have been identified as modalities to aid in detection for high-risk individuals. Early referral allows for less-invasive surgical outcomes with lower complication rates. RESULTS: Familiarity with craniosynostosis among obstetric providers can improve patient counseling, prenatal detection rates, and appropriate antepartum, intrapartum, and postpartum counseling.

The prevalence of persistent metopic sutures comparing the Nepalese bone collection with Korean bone collection / Prevalencia de suturas metópicas persistentes que comparan una colección de huesos nepaleses con una colección de huesos coreanos

SUMMARY: Metopic suture can be visualized from the nasion to the bregma along the arch of the frontal bone in mid-sagittal plane. Persistent metopic suture normally closing between 1st and 2nd year of life has also been related with ethnicity. The present study reports the presence of complete and incomplete metopic sutures in Nepalese and Korean population skulls which helps to shed light on its incidence rate. Out of 121 adult skulls in Nepalese population, metopic suture was found to be present in 33 skulls. Incomplete metopic sutures showed variations of morphology, like linear (6.61 %), V-shaped (8.26 %) and double incomplete (10.74 %) and two cases with complete metopic suture, which showed variation in interdigitation between its anterior and posterior ends. Korean population showed metopic suture to be present in 8 skulls out of 104 with metopism in 3 skulls. Incomplete metopic sutures like double incomplete (1.92 %) and linear (2.88 %) were also noted. Alterations to local strains could be the contributing factor for such variation and complexity of interdigitation, which occur during the growth of the braincase. The knowledge of the metopic suture and its variations according to ethnicity is important and should be considered to prevent wrong diagnosis. The presence of different types of metopic sutures as reported by the present study provides informative value on the presence and variation of such sutures in population depending on ethnicity and ought to be helpful in diagnostic sequences in emergency setting.

RESUMEN: La sutura metópica se puede visualizar desde nasión hasta el bregma a lo largo del arco del hueso frontal en el plano mediano sagital. La sutura metópica persistente que normalmente se cierra entre el primer y segundo año de vida, también se ha relacionado con el origen étnico. El presente estudio informa la presencia de suturas metópicas completas e incompletas en los cráneos de la población nepalesa y coreana, lo que además de entregar información sobre su tasa de incidencia. De 121 cráneos adultos en la población nepalesa, en 33 de ellos se encontró la sutura metópica. Las suturas metópicas incompletas mostraron variaciones de la morfología, como lineal (6,61 %), en forma de V (8,26 %) y doble incompleta (10,74 %), además de dos casos con sutura metópica completa, que mostraron variación en la interdigitación entre sus extremos anterior y posterior. De los 104 cráneos de la población coreana en 8 se presentó la sutura metópica y en 3 metopismo. También se observaron suturas metópicas incompletas como doble incompleta (1,92 %) y lineal (2,88 %). Las alteraciones en las etnias locales podrían ser el factor contribuyente para tal variación y complejidad de la interdigitación, que ocurre durante el crecimiento de la cráneo. El conocimiento de la sutura metópica y sus variaciones según el origen étnico es importante y debe considerarse para prevenir un diagnóstico incorrecto. La presencia de diferentes tipos de suturas metópicas según lo informado en el estudio, proporciona un valor informativo sobre la presencia y la variación de tales suturas en la población, dependiendo de la etnia, y debería ser útil en las secuencias de diagnóstico en situaciones de emergencia.

Incidence and morphology of the incisive suture in CT scanning of young children and human fetuses.

PURPOSE: Incisive suture is a suture classically described on the oral face of the palate in fetuses and young children. The aim of our study was to describe the evolution of the incisive suture in human fetuses and to evaluate the incidence of this suture in a population of young children under 4 years, to determine if there is a possibility of improving the anterior growth of the maxilla, by stimulation of this suture. METHODS: One hundred and thirty CT scan images of patients aged from birth to 48 months have been studied and nine fetal palates aged from 18 to 26 weeks of development, have been scanned using high-resolution X-ray micro-computed tomography RESULTS: The CT scan images of patients showed that an incisive suture was present in 33/130 cases (25,4%). All the patients with a suture were under 2 years old. The fetal palate study showed that the suture was present in the inferior aspect of the palate (oral cavity) in all cases. The incisive suture increased from 18 to 24 weeks. At 26 weeks it stopped growing although the intercanine length increased. Considering the closure of the suture in a vertical plane, our study on fetuses has shown that the incisive suture is closing from its superior side (nasal side) to its inferior side. CONCLUSIONS: Considering all these results it appears to us that the incisive suture is partially ossified after birth, it cannot be stimulated by orthodontic appliances.

Rare morphological variants of the bones: epicondylar processes, metopic suture and Wormian bones in XVIII century skeleton.

BACKGROUND: Analysis of the female skeleton from the 18th century revealed a collection of morphological changes. MATERIALS AND METHODS: Anthropological evaluation and dental X-ray techniques allowed the age to be determined at 12-13 years. RESULTS: The distal parts of the both humerus bones had distinct, supracondylar processes of about 5 mm at the medial-lateral surface. The frontal bone had a well-preserved metopic suture along the entire length of the squama. There were also two Wormian bones (Inca bones), asymmetrical mastoid foramen, and only left non-obliterated condylar canal. CONCLUSIONS: The skull measurements allowed the cranial index to be determined - 93.5 (brachycephalia) and height-length index - 98.6 (akrocephalus). Moreover, X-ray analysis of incomplete dentition was made.

The metopic suture: Natural history.

The metopic suture (MS) is one of the main sutures of the calvaria; premature closure is responsible for trigonocephaly, while persistence (metopism) is considered a normal variant. The ages of onset and completion of MS closure and prevalence of metopism in normal children are poorly documented. We studied the pattern of MS closure on 3D-CT scans of 477 children admitted for head trauma since 2012. We also studied the prevalence of trigonocephaly and the sex ratio in our clinical series of patients with all types of synostosis diagnosed during the last 4 decades. In the majority of children, MS closure started at 4 months and was complete at 9 months. The prevalence of metopism was stable after 1 year of age, at 5.1%; it was more than twice as frequent in girls (F/M ratio 2.1, non-significant). Our trigonocephaly series and the literature show a steady increase in prevalence over recent decades. During the same period, the prevalence of metopism decreased steadily. Data from comparative anatomy and paleoanthropology suggest that postnatal MS persistence in our species results from the risk of dystocia caused by the closed pelvis associated with bipedalism. The increasing incidence of trigonocephaly appears to parallel the fall in prevalence of metopism. The increasing use of cesarean section may have eliminated a potent selection factor in favor of postnatal persistence of the MS.

Nonsyndromic Craniosynostosis.

Nonsyndromic craniosynostosis is significantly more common than syndromic craniosynostosis, affecting the sagittal, coronal, metopic, and lambdoid sutures in decreasing order of frequency. Nonsyndromic craniosynostosis is most frequently associated with only 1 fused suture, creating a predictable head shape. Repair of craniosynostosis is recommended to avoid potential neurodevelopmental delay. Early intervention at 3 to 4 months of age allows minimally invasive approaches, but requires postoperative molding helmet therapy and good family compliance. Open techniques are deferred until the child is older to better tolerate the associated surgical stress. Cranial vault remodeling is generally well-tolerated with a low rate of complications.

Syndromic Craniosynostosis.

Management strategies for syndromic craniosynostosis patients require multidisciplinary subspecialty teams to provide optimal care for complex reconstructive approaches. The most common craniosynostosis syndromes include Apert (FGFR2), Crouzon (FGFR2), Muenke (FGFR3), Pfeiffer (FGFR1 and FGFR2), and Saethre-Chotzen (TWIST). Bicoronal craniosynostosis (turribrachycephaly) is most commonly associated with syndromic craniosynostosis. Disease presentation varies from mild sutural involvement to severe pansynostoses, with a spectrum of extracraniofacial dysmorphic manifestations. Understanding the multifaceted syndromic presentations while appreciating the panoply of variable presentations is central to delivering necessary individualized care. Cranial vault remodeling aims to relieve restriction of cranial development and elevated intracranial pressure and restore normal morphology.

Incidence, number and topography of Wormian bones in Greek adult dry skulls.

BACKGROUND: Wormian bones (WBs) are irregularly shaped bones formed from independent ossification centres found along cranial sutures and fontanelles. Their incidence varies among different populations and they constitute an anthropo- logical marker. Precise mechanism of formation is unknown and being under the control of genetic background and environmental factors. The aim of the current study is to investigate the incidence of WBs presence, number and topographical distribution according to gender and side in Greek adult dry skulls. MATERIALS AND METHODS: All sutures and fontanelles of 166 Greek adult dry skulls were examined for the presence, topography and number of WBs. One hundred and nineteen intact and 47 horizontally craniotomised skulls were examined for WBs presence on either side of the cranium, both exocranially and intracranially. RESULTS: One hundred and twenty-four (74.7%) skulls had WBs. No difference was detected between the incidence of WBs, gender and age. Sutures and fon- tanelles located in neurocranium showed a higher incidence of WBs, contrariwise to orbital sutures that indicated a low incidence. WBs most commonly located in the lambdoid suture (44.6%), followed in order of frequency by the coronal suture (39.8%), asterion (21% on the left and 15.3% on the right side) and parie- tomastoid suture (15.1% on the left and 13.9% on the right side). Other sutures with WBs were the occipitomastoid, sagittal, squamosal, zygomaticosphenoid, metopic, frontonasal and frontozygomatic. Regarding the skull fontanelles, WBs were found at pterion, posterior and anterior fontanelles. CONCLUSIONS: The current study highlights a high incidence of WBs in a Greek population, indicating racial variation. The in depth knowledge of exact location, frequency and number of WBs is essential for clinicians intervening in the skull area, anthropologists and forensic surgeons investigating child abuse cases.

Multiple supernumerary teeth in a likely syndromic individual from prehistoric Illinois.

OBJECTIVE: This paper reports the first published case of a prehistoric human with five or more supernumerary teeth. Such cases are often neglected in paleopathology, in part due to a gap between the medicodental and anthropological literature leading to the view in anthropology that supernumerary teeth are curious anomalies rather than pathologies. DESIGN: Reconstruction and pathological description of the skeletal remains were performed according to standard osteological protocols. Each supernumerary tooth was categorized based on its morphology, location, and orientation. The dental characteristics of the individual were compared to published norms for incidences of syndromic and non-syndromic supernumerary teeth and a differential diagnosis was subsequently performed. RESULTS: Six supernumerary teeth and one deciduous tooth were identified. Additionally, the individual suffered from impacted teeth, dilacerated roots, and extensive sutural anomalies (including retention of the metopic suture into adulthood and an unusually high number of sutural bones). The morphology and location of the supernumerary teeth, in conjunction with the suite of other symptoms, are highly unusual among non-syndromic patients and therefore are indicative of a complex genetic disorder. CONCLUSIONS: The individual reported here almost certainly suffered from a genetic disorder or syndrome resulting in extensive dental and sutural abnormalities. Despite a lack of post-cranial involvement, a tentative diagnosis of Cleidocranial Dysplasia was made on the basis that mutations in the RUNX2 gene may cause the dental symptoms without any pathology of the clavicle.

Quantitative evaluation of facial hypoplasia and airway obstruction in infants with syndromic craniosynostosis: relationship with skull base and splanchnocranium sutural pattern.

PURPOSE: Craniosynostostic syndromes are due to multisuture synostoses and affect the entire craniofacial skeleton. This study analyzed the facial complex and airways to quantify the relationship between insufficient facial growth, airways obstruction, and the sutural pattern of the splanchnocranium and cranial fossae. METHODS: Preoperative high-resolution CT images in 19 infants with syndromic craniosynostosis were quantitatively analyzed. Because all children showed involvement of minor sutures/synchondroses coursing in the posterior cranial fossa, they were divided into three groups according to the synostotic involvement of "minor" sutures/synchondroses coursing in anterior (ACF) and middle (MCF) cranial fossae: group 1 (ACF), group 2 (MCF), and group 3 (ACF-MCF). Analysis of the facial complex and airway was performed. Each group was compared with age-matched healthy subjects. RESULTS: Premature closure of skull base synchondroses of ACF and MCF was found only in groups MCF and ACF-MCF. Group MCF showed synostosis in the posterior branch of the coronal ring and reduced anterior hemifossae lengths while group ACF-MCF showed synostosis in the anterior branch of the coronal ring and reduced middle hemifossae lengths. No group showed reduced maxillary or mandibular volumes but group MCF showed synostosis of the zygomaticomaxillary sutures and maxillary retrusion. All groups showed reduced airway volume but group 2 had a higher degree of airway hypoplasia. CONCLUSION: The skull base synostotic process drives the changes in facial complex growth and airway obstruction. Premature closure of synchondroses/sutures in the posterior branch of the coronal ring causes insufficient facial growth, maxillary retrusion, and more severe airway reduction.

Minimally Invasive, Spring-Assisted Correction of Sagittal Suture Synostosis: Technique, Outcome, and Complications in 83 Cases.

BACKGROUND: This series describes the results of minimally invasive strip craniotomy with additional spring distraction. METHODS: Included are the first 83 consecutive patients who underwent this procedure (January 1, 2010, to January 1, 2014). Outcome parameters were collected prospectively and included surgical parameters and complications, the occurrence of papilledema, skull growth, cephalic index, and photographic scores. RESULTS: Duration of surgery was 63 minutes, 19 percent required blood transfusion, and complications were minor. Postoperative papilledema occurred in two patients (2.4 percent). Head growth increased after insertion of the springs and declined afterward to 0.7 SD, comparable to earlier cohorts in the authors' center. The cephalic index increased from 67 before surgery to 74 after surgery and showed a small decrease during the 4-year follow-up. Photographic scores confirmed the initial improvement and showed a trend to further improvement during follow-up. CONCLUSIONS: In this cohort, spring-assisted, minimally invasive strip craniotomy was safe and effective. Results were similar to those from other techniques but with smaller incisions, shorter interventions, reduced blood loss, and a lower incidence of postoperative papilledema. CLINICAL QUESTION/LEVEL OF EVIDENCE: Therapeutic, IV.