Metopic Research Articles

Typical changes of ethmocephaly and holoprosencephaly in a fetus at 14 weeks of gestation

Abstract Background This case report is to show the details of the face of a very rare ethmocephaly at 14 weeks of gestation. Case presentation After the regular transabdominal two-dimensional (2D) scan for nuchal translucency we could describe the following malformations: holoprosencephaly, proboscis and an abnormal face, omphalocele containing bowel, hyperechoic kidneys and megacystis. In addition, we acquired transvaginal three-dimensional (3D) ultrasound volume blocks of the fetal head, scanned with different insonation angles and stored them for later analysis. Using the multiplanar mode the volume blocks taken from the front show all details of the face: proboscis, hypotelorism, microphthalmia, cleft palate, accelerated development of the frontal bones and premature closure of the metopic suture. The volume blocks taken through the squamosal suture show all details of the fossa posterior and brain: fused thalami surrounded by the typical monoventricle, normal brain stem, elongation of anterior membranous area. Render mode shows a precise 3D image of the face. To better demonstrate the changes of the fetal face a post-mortem photo of the fetal face is included. Conclusion This case report can demonstarte the typical changes of ethmocephaly in the first trimester using transvaginal 3D scan.

Surgical management of patients with trigonocephaly: case series

Background: Craniosynostosis is the early closure of one or more cranial sutures. It produces an abnormal growth of the skull, generating complications such as intracranial hypertension, visual disorders, among others. Its diagnosis is clinical-imaging. Within cranial sutures we find the metopic suture, whose premature fusion occurs before 7-9 months of life, resulting in a trigonocephaly. This malformation is characterized by presenting: keel-shaped forehead, hypotelorism, orbital lateral retrusion, bitemporal restriction and compensatory occipitoparietal widening. Surgical correction aims to normalize craniofacial appearance and intracranial volume. With this surgery, it is sought to grant aesthetics to the frontal region, improve hypotelorism, expand the frontal portion of the skull to allow the normal growth of the brain. Within the surgical technique, the widening and flattening of the fronto-orbital bar is sought, the superior-lateral advance of the orbits and a new shape to the frontal zone.

Immature stages of the genus Casignetus MacLeay, 1819 (Coleoptera: Lucanidae: Lucaninae).

The immature stages of Casignetus MacLeay, 1819 (Coleoptera: Lucanidae: Lucaninae: Casignetini) are revised with the description of third instars of males and female of C. humboldti (Gyllenhal, 1817), and C. spixi (Perty, 1830), and female of C. lindei (Boileau, 1899). Pupae of both sexes of C. humboldti, and female of C. lindei are also described for the first time. Casignetus larvae can be recognized by the form of the pars stridens, formed by a slightly arched, longitudinal row of robust, and sclerotized teeth, and by the fusion of the femur and trochanter in prothoracic and mesothoracic legs. Additionally, new characters are proposed for Casignetus species: frontal sutures curvature; epicranial setae; epipharynx and hypopharynx setae; and number and shape of stridulatory teeth.

Why do metopic sutural synostoses angulate? The concept of nasion sutural complex and its implication on the management of hypotelorism-early results and proof of concept.

Angulation at the suture is a hallmark of metopic synostoses amongst all craniosynostoses. No other sutural synostoses demonstrate angulation at synostoses consistently. We look into the possible aetiology and the implication of the understanding in the treatment goals of trigonocephaly. We hypothesise that the nasal bone and nasofrontal suture viz. "nasion sutural complex" are involved in trigonocephaly along with the well-accepted role of metopic suture. We propose that it is the angulation at this junction which leads to trigonocephaly and its secondary features. The study included seven infants, who underwent correction for trigonocephaly at our paediatric craniofacial division at Amrita Institute of Medical Sciences and Research Centre, Kochi, India, between the period July 2015 to March 2018. The cohort included were infants with trigonocephaly who had CT head for diagnosis. We analysed the multidimensional CT (MDCT) of these infants and compared to an equal number of age-matched controls. The controls were infants with other forms of sutural synostosis with metopic uninvolved and normal infants where MDCT was done for other reasons. Sutural characteristic at the nasion and metopic suture recorded in comparison with an equal number of age-matched controls. We performed spring cranioplasty for three infants after metopic suturectomy, extending the release beyond the nasion sutural complex, placing springs to distract the suture. The infants who underwent spring cranioplasty were followed up for the aesthetic outcome. Remaining infants of the study underwent standard frontorbital correction for metopic craniosynostoses. We could demonstrate a fusion of nasofrontal and nasal suture in all cases (n = 7) of trigonocephaly included in the study on MDCT and intraoperatively. We performed spring cranioplasty for three infants (n = 3/7), where we released the internasal suture. At 3months follow-up, along with correction of the angulation, the hypotelorism improved significantly. Other infants in the study (4/7) underwent classical frontorbital advancement. Fusion of nasion sutural complex along with metopic sutures may explain the angulation in trigonocephaly. We propose that all minimally invasive techniques for correction of trigonocephaly and associated hypotelorism should consider this fact for an improved outcome.

Anterior Cranial Vault Reconstruction With Distraction for Primary and Secondary Craniosynostosis Repair.

Traditional fronto-orbital advancement continues to be a useful operation for correction of craniosynostosis involving the coronal or metopic sutures. Recently, distraction osteogenesis has been used to correct a variety of cranial deformities. Studies have mostly focused on posterior vault distraction due to its simplicity and greater volume gain when compared with anterior vault distraction. However, certain patients are not candidates for posterior distraction due to anterior deformity and need for expansion of the frontal skull. The authors have developed a technique that allows for both reshaping as well as distraction of the anterior cranial vault.This was a retrospective chart review performed between March 2012 and October 2016 at a single institution by a single plastic surgeon. Thirty-nine (39) patients were included in this study. The indications for surgical intervention were signs of increased intracranial pressure or severe anterior skull deformity in the setting of craniosynostosis. The authors reviewed patient characteristics, length of follow-up, number of previous and subsequent surgeries, complications, and rate of relapse.The average age of patients undergoing the procedure was 5.2 years (range 6 months-15 years). Twenty-four (24) patients had 1 previous surgery, 3 had 2 previous surgeries, 1 had 3 previous surgeries, and 11 had no previous surgeries. The average follow-up was 2.5 years (range 6 months-4 years). One patient had a broken activation wire requiring return to the operating room. Three (3) patients (2 Apert and 1 Crouzon) underwent subsequent posterior vault distraction surgery. All patients demonstrated significant improvement in forehead cosmesis.Anterior cranial vault reconstruction with distraction is a safe alternative to traditional cranial vault reconstruction. It can improve forehead shape and position in older children who have had previous surgery as well as patients with severe anterior skull deformity associated with craniosynostosis.

Practical Computed Tomography Scan Findings for Distinguishing Metopic Craniosynostosis from Metopic Ridging.

Background:Premature fusion of the metopic suture (ie, metopic craniosynostosis) can be difficult to discriminate from physiological closure of the metopic suture with ridging (MR). Yet, MCS is treated surgically, whereas MR is treated nonsurgically. Often, the diagnosis can be made by physical examination alone, but in difficult cases, a computed tomography (CT) scan can add additional diagnostic information.Methods:We de-identified, randomized, and analyzed the CT scans of patients with MCS (n = 52), MR (n = 20) and age-matched normative controls (n = 52) to identify specific findings helpful in distinguishing between MCS and MR. Four expert clinicians were blinded to the clinical diagnosis and assessed each CT for features of the orbits, frontal bones, and inner table of calvaria.Results:Although no single feature was diagnostic of MCS, we identified several signs that were correlated with MCS, MR, or controls. Features such as “posteriorly displaced frontal bone” and “frontal bone tangent to mid-orbit or medial” demonstrated higher correlation with MCS than MR and the addition of other features improves the accuracy of diagnosis as did inclusion of the interfrontal divergence angle.Conclusion:The presence of a closed metopic suture in addition to other CT scan findings may improve the accuracy of diagnosing MCS, MR, and normocephaly.

Trigonocephaly: Long-term results after surgical correction of metopic suture synostosis.

Premature closure and ossification of the metopic suture results in a triangular head shape called trigonocephaly and is characterized by a wedge-shaped forehead and frontotemporal narrowing. Untreated craniosynostosis may lead to increased intracranial pressure (ICP) and, thereby, impaired neurodevelopment. Over the last decades, its incidence has been increasing, currently making it the 2nd most common type of isolated craniosynostosis. Treatment consist of cranioplasty, which should be performed before the age of 1 year. The aim of this study was to evaluate the long-term surgical outcomes in children operated on for trigonocephaly. The authors reviewed 30 consecutive cases of metopic synostosis treated over a 14-year period in the Plastic Surgery Department in Polanica-Zdrój, Poland. The data was evaluated using the patients' clinical records, and preoperative and postoperative photographs. The patients showed up on a follow-up visit at a median age of 9 years and were examined by an ophthalmologist and a neurologist. The surgical outcomes were evaluated according to the Whitaker classification. In 23 patients, remodeling and the advancement of fronto-orbital skull segments was performed at a median age of 18 months and in 7 milder cases, simple suturectomy or burring of the metopic ridge was sufficient. According to the Whitaker classification, results were considered good to excellent (category I and II). Only 1 patient was included into category III. None of the examined cases were included into category IV, which would require a major craniofacial procedure, duplicating or exceeding the original operation. Neurological abnormalities were found in 12 cases and vision defects in 15 cases. Trigonocephaly is currently the 2nd most common type of isolated synostosis. Surgical treatment based on Tessier's and Marchac's modified methods provides good results in patients at the age of about 12 months and prevents the consequences of ICP increase. Primary neurological and behavioral disorders may occur, despite corrective surgery.

Runx2 function in cells of neural crest origin during intramembranous ossification

Runt-related transcription factor 2 (Runx2), also known as core binding factor 1 (Cbfa1), is a multifunctional transcription factor and an essential master gene controlling osteoblast differentiation. We previously demonstrated the in vivo functions of Runx2 in mesoderm-derived cells. However, no studies have been conducted on Runx2 function during the differentiation of neural crest (NC)-derived cells in vivo. Wingless-type MMTV integration site family member 1 (Wnt1) is expressed in the NC, and Wnt1-Cre efficiently targets craniofacial NC-derived cells. Runx2 deficiency in cells of the Wnt1 lineage (referred henceforth as Runx2wnt1−/− within mice) resulted in defective ossification in certain regions, primarily in the anterior half of the craniofacial bones, including the frontal bone, jugal bone, squamous temporal bone, mandible, maxilla, and nasal bone. The skeletal analysis also revealed that heterozygous Runx2wnt1+/− embryos had an impaired closure of the frontal bone at the metopic suture and lacked the secondary palate in spite of otherwise normal ossification. This result suggests that ossification at the central part of the frontal bone is more dependent on Runx2 expression in comparison to other areas. These results indicate that Runx2 is indispensable not only for mesoderm-derived cells but also for NC-derived cells to differentiate during intramembranous ossification after migration to their destination from the neural plate border. Moreover, this implies that there are different levels of dependency on Runx2 expression for successful ossification between NC-derived cells that have migrated to different locations.

Frontal sinus development with preserved metopic suture

Frontal sinus development with preserved metopic suture

Coexistence of Complete Metopic Suture and Inca Bone in Thai Skulls: Incidence, Morphology and Clinical Applications

Coexistence of Complete Metopic Suture and Inca Bone in Thai Skulls: Incidence, Morphology and Clinical Applications

Persistent Metopic Suture in Adult Cadaveric Dry Skulls of Coastal Karnataka

Persistent Metopic Suture in Adult Cadaveric Dry Skulls of Coastal Karnataka

Cledocranial Dysplasia-A Prosthetic Challenge

Cleidocranial dysplasia (CCD) is a rare dominantly inherited autosomal bone disease, characterized by delayed closure of fontanelles, presence of open skull sutures, hypoplastic or aplastic clavicles, supernumerary teeth, delayed eruption of permanent dentition, hypoplastic maxilla, wide pubic symphysis, short stature and a variety of other skeletal changes. Delayed closure of the anterior fontanelle and of metopic sutures results in frontal bossing. CCD is caused by mutation in the gene on 6p21 encoding transcription factor CBFA1, i.e. runt” related transcription factor 2(RUNX2). The phenotypic spectrum ranges from mildly affected individuals with dental abnormalities to severely affected patients with syringomyelia. An 18-year-old boy was referred to the Department of Prosthodontics, Faculty of Dental Sciences, SGT University with a chief complaint of multiple missing teeth. The patient was subsequently diagnosed with Cleidocranial dysplasia based on the clinical examination, panoramic X-ray, anterior-posterior & lateral cephalogram and chest radiograph findings. The case report presents the clinical and radiographic findings associated with CCD along with its prosthetic management.

Adaptive neurogenesis in the cerebral cortex and contralateral subventricular zone induced by unilateral cortical devascularization: Possible modulation by dopamine neurotransmission.

Understanding endogenous neurogenesis and neuronal replacement to mature circuits is a topic of discussion as a therapeutic alternative under acute and chronic neurodegenerative disorders. Adaptive neurogenic response may result as a result of ischemia which could support long-term recovery of behavioral functions. Endogenous sources of neural progenitors may be stimulated by changes in blood flow or neuromodulation. Using a mouse model of unilateral cortical devascularization, we have observed reactive neurogenesis in the perilesional cortex and subventricular zone neurogenic niche. C57BL/6L 4weeks old male mice were craneotomized at 1mm caudal from frontal suture and 1mm lateral from midline to generate a window of 3mm side. Brain injury was produced by removal of the meninges and superficial vasculature of dorsal parietal cortex. BrdU agent (50mg/kg, ip) was injected to lesioned and sham animals, during days 0 and 1 after surgery. Sagittal sections were analyzed at 1, 4, 7, and 10days post-injury. A time-dependent increase in BrdU+ cells in the perilesional parietal cortex was accompanied by augmented BrdU+ cells in the sub ventricular and rostral migratory stream of ipsilateral and contralateral hemispheres. Neural progenitors and neuroblasts proliferated in the lesioned and non-lesioned subventricular zone and rostral migratory stream on day 4 after injury. Augmented contralateral neurogenesis was associated with an increase in vesicular monoamine transporter 2 protein in the striosomal sub ventricular neurogenic niche of non-lesioned hemisphere.

PLGA-based control release of Noggin blocks the premature fusion of cranial sutures caused by retinoic acid

Craniosynostosis (CS), the premature and pathological fusion of cranial sutures, is a relatively common developmental disorder. Elucidation of the pathways involved and thus therapeutically targeting it would be promising for the prevention of CS. In the present study, we examined the role of BMP pathway in the all-trans retinoic acid (atRA)–induced CS model and tried to target the pathway in vivo via PLGA-based control release. As expected, the posterior frontal suture was found to fuse prematurely in the atRA subcutaneous injection mouse model. Further mechanism study revealed that atRA could repress the proliferation while promote the osteogenic differentiation of suture-derived mesenchymal cells (SMCs). Moreover, BMP signal pathway was found to be activated by atRA, as seen from increased expression of BMPR-2 and pSMAD1/5/9. Recombinant mouse Noggin blocked the atRA-induced enhancement of osteogenesis of SMCs in vitro. In vivo, PLGA microsphere encapsulated with Noggin significantly prevented the atRA-induced suture fusion. Collectively, these data support the hypothesis that BMP signaling is involved in retinoic acid–induced premature fusion of cranial sutures, while PLGA microsphere–based control release of Noggin emerges as a promising strategy for prevention of atRA-induced suture fusion.

Physiologic closure time of the metopic suture in South Australian infants from 3D CT scans.

This retrospective study aims to investigate the timing of metopic suture fusion in the developing infant in an Australian subpopulation. The study evaluates metopic suture fusion in 258 cranial 3D CT scans of children aged 0-24months over a 5-year period (2011-2016), scanned at Women's and Children's Hospital. The findings suggest that the age range over which physiologic metopic suture fusion occurs is larger than previously reported. The approximate range for physiologic fusion was found to be 3-19months and patients with fusion within this range can be considered normal. Complete suture fusion is expected by 19months. Additionally, results indicate suture fusion prior to 3months is abnormal and diagnostically indicative of metopic synostosis.

Locally Affine Diffeomorphic Surface Registration and Its Application to Surgical Planning of Fronto-Orbital Advancement.

Metopic craniosynostosis is a condition caused by the premature fusion of the metopic cranial suture. If untreated, it can result into brain growth restriction, increased intra-cranial pressure, visual impairment, and cognitive delay. Fronto-orbital advancement is the widely accepted surgical approach to correct cranial shape abnormalities in patients with metopic craniosynostosis, but the outcome of the surgery remains very dependent on the expertise of the surgeon because of the lack of objective and personalized cranial shape metrics to target during the intervention. We propose in this paper a locally affine diffeomorphic surface registration framework to create an optimal interventional plan personalized to each patient. Our method calculates the optimal surgical plan by minimizing cranial shape abnormalities, which are quantified using objective metrics based on a normative model of cranial shapes built from 198 healthy cases. It is guided by clinical osteotomy templates for fronto-orbital advancement, and it automatically calculates how much and in which direction each bone piece needs to be translated, rotated, and/or bent. Our locally affine framework models separately the transformation of each bone piece while ensuring the consistency of the global transformation. We used our method to calculate the optimal surgical plan for 23 patients, obtaining a significant reduction of malformations (p < 0.001) between 40.38% and 50.85% in the simulated outcome of the surgery using different osteotomy templates. In addition, malformation values were within healthy ranges (p > 0.01).

Cleidocranial dysplasia: Radiological mimic of pyknodysostosis – A case report

Cleidocranial dysplasia (CCD) is a rare autosomal dominant skeletal disorder with predominant membranous bone involvement. It may also occur as a sporadic mutation. The diagnosis of this condition is based on the clinical, radiological and genetic findings. It is characterised by hypoplasia or aplasia of the lateral thirds of the clavicles; craniofacial and dental anomalies; and hypoplastic iliac bones. Pyknodysostosis is a close radiological mimic of this entity. Definite diagnosis is based on the genetic analysis. A 36-year-old short-statured female was referred for computed tomography of the paranasal regions for complaints of a deviated nasal septum and midline depression in her forehead. Skeletal screening demonstrated an open metopic suture, wormian bones, maxillary hypoplasia, maldentition and aplastic lateral thirds of both clavicles. In this article, we report a case of CCD, discuss various overlapping features between CCD and pyknodysostosis and attempt to differentiate them radiologically.

Multiple supernumerary teeth in a likely syndromic individual from prehistoric Illinois

ObjectiveThis 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. DesignReconstruction 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. ResultsSix 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. ConclusionsThe 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.

Abstract 17.50 CRANIOFACIAL DISTRACTION IN MANAGEMENT OF ANTERIOR PLAGIOCEPHALY: A NOVEL IDEA AND A SYSTEMATIC REVIEW OF THE LITERATURE

BACKGROUND: The objective of this article is to present a review of all reports included management of uni-coronal synostosis with distraction osteogenesis. Also, we innovated a new method in the treatment of cases of anteriorPlagiocephaly in an early time using distraction osteogenesis. METHODS: We present a case in which the anterior plagiocephaly was treated by distraction osteogenesis of both metopic and hemicoronal sutures in a four-month-old female patient. A comprehensive systematic review was completed using key search terms, including distraction, uni-coronal synostosis, anterior plagiocephaly, craniosynostosis. We excluded all experimental articles and picked up the clinical reports which show the usage of Distraction Osteogenesis in the management of uni-coronal synostosis. The study sample of this review consisted of 16 reports that, we analyzed them in detail. RESULTS: Over 17 years, 16 articles were published in seven journals reported the use of DO in the treatment of Unicoronal Synostosis. A total number of patients treated by DO were 120, the mean age at operations was 12 months. In the case presented, The rate of distraction was 1/3 mm/day for the metopic suture for 48 days and 2/3 mm/day for the right coronal suture for 30 days. Successful distraction osteogeneses for both sutures were achieved with adequate correction of cranioorbital dysmorphology. CONCLUSION: Distraction Osteogenesis is one of the mainstay treatments in uni-coronal synostosis. We believe that distraction of both metopic and hemicoronal in anterior plagiocephaly could improve the shape and restore the midline shift. KEYWORDS: distraction; uni-coronal synostosis; anterior plagiocephaly; craniosynostosis.

Frontoorbital Advancement and Forehead Remodeling for Correction of Anterior Calvarial Craniosynostosis, Surgical Technique and Results in Low Economic Facilities: Benha Experience

AbstractBackground: Craniosynostosis is a congenital problem that affects brain development and causes disfigurement of the head and face. Anterior calvarial craniosynostosis involves the metopic and/or coronal sutures. The most accepted surgical correction involves frontoorbital advancement and forehead remodeling. Lack of knowledge about craniosynostosis, the need for equipped facilities in addition to the fear of compli-cations from surgery led to delay in doing surgery at the optimum age, and with this delay more complex surgical techniques are needed, with a less favorable outcome.Aim of the Study: In this study, we described our experience and technique in surgical correction of anterior calvarial craniosynostosis at Benha University Hospital using the frontoorbital advancement technique without the use of any expensive miniplates or helmets compensating the low soci-oeconomic standard of the community.Study Design: This is a retrospective study case series of 15 patients, their ages ranged from 4 to 30 months. All patients have anterior calvarial craniosynostosis and were treated surgically using the frontoorbital advancement technique. Patients had been followed after surgery for a period of time ranged from 8 to 20 months during the years from March 2013 to December 2016.Patients and Methods: Fifteen patients were included; four with pure metopic craniosynostosis, five with combined metopic and coronal, four patients with bilateral coronal and two with unilateral coronal. Patients were clinically and radiologically evaluated using CT scan skull with 3D recon-struction. Pre and post-operative scans as well as patient photographs have been compared and evaluated for the degree of correction of the relationship between the supra orbital bar and the cornea as well as the degree of correction of the deformity in the face and forehead.Results: Out of 15 patients with craniosynostosis involved in this study, 11 (73.3%) patients had achieved very good cosmetic and functional outcome, two patients (13.3%) had an unsatisfactory cosmetic outcome in the form of irregularities in the shape of the skull that necessitated to do another surgery, one patient (6.67%) had a bad cosmetic outcome, and one patient died in the early post-operative period.Conclusion: Frontoorbital advancement with forehead remodeling is the best option for treating anterior calvarial craniosynostosis. For achieving better results surgery should be done at the optimum age and in well equipped medical center. Although using miniplates and helmets may help with the outcome, surgery can be performed with minimal resources in accordance with the economic state of the community with good results.