Open Fontanelle Research Articles

Intraoperative transfontanelle ultrasonography for pediatric patients.

Cerebral blood flow (CBF) plays a vital role in delivering cerebral oxygen, and the accurate assessment of CBF is crucial for the intraoperative management of critically ill infants. Although the direct measurement of CBF is challenging, CBF velocity (CBFV) can be assessed using transcranial Doppler. Recent advances in point-of-care ultrasound have introduced brain ultrasound as a feasible intraoperative option, in which transfontanelle ultrasonography (TFU) has been applied to measure the CBFV through the anterior fontanelle. However, the intraoperative application of TFU in pediatric patients remains limited. The present review highlights the procedural aspects and clinical applications of TFU for anesthetic and intensive care management in pediatric patients. TFU facilitates the visualization of cerebral vessels and allows a noninvasive assessment of cerebral hemodynamics. The clinical significance of TFU involves its usefulness in various clinical scenarios, including monitoring CBF during cardiac surgery, assessing fluid responsiveness, and estimating intracranial pressure. TFU also enables the detection of cerebral emboli and the evaluation of anatomical abnormalities such as hydrocephalus or intracranial hemorrhage. TFU has demonstrated potential as an invaluable tool in pediatric care, despite limited familiarity among anesthesiologists. Additional research is needed to explore the associations between CBF and clinical outcomes, focusing on autoregulation, the impact of physiological changes, the associations of TFU findings with other brain monitoring tools such as electroencephalography, cerebral oximetry, and the implications of microemboli. TFU is a significant advancement and valuable tool for noninvasively assessing cerebral hemodynamics and CBF in pediatric patients with open fontanelles.

FGF Signaling Regulates Development of the Anterior Fontanelle.

The calvarial bones of the infant skull are connected by transient fibrous joints known as sutures and fontanelles, which are essential for reshaping during birth and postnatal growth. Genetic disorders such as Apert, Pfeiffer, Crouzon, and Bent bone dysplasia linked to FGFR2 variants often exhibit multi-suture craniosynostosis and a persistently open anterior fontanelle (AF). This study leverages mouse genetics and single-cell transcriptomics to determine how Fgfr2 regulates closure of the AF closure and its transformation into the frontal suture during postnatal development. We find that cells of the AF, marked by the tendon/ligament factor SCX, are spatially restricted to ecto- or endocranial domains and undergo regionally selective differentiation into ligament, bone, and cartilage. Differentiation of SCX+ AF cells is dependent on FGFR2 signaling in cells of the osteogenic fronts which, when fueled by FGF18 from the ectocranial mesenchyme, express the secreted WNT inhibitor WIF1 to regulate WNT signaling in neighboring AF cells. Upon loss of Fgfr2 , Wif1 expression is lost, and cells of the AF retain a connective tissue-like fate failing to form the posterior frontal suture. This study provides new insights into regional differences in suture development by identifying an FGF-WNT signaling circuit within the AF that links frontal bone advancement with suture joint formation.

Does cranial bone ossification differ in children with developmental dysplasia of the hip?

This study aims to compare cranial bone ossification between patients with developmental dysplasia of the hip (DDH) and healthy individuals. Between September 2021 and April 2022, a total of 60 healthy female individuals (median age: 24.5 months; range, 18 to 36 months) and 56 female DDH patients (median age: 23 months; range, 18 to 35 months) were included. Age, head circumference, weight, height, and patency of the anterior fontanel were measured in groups. Percentiles were classified as very low, low, normal, high and very high. All patients were female and those with abnormal thyroid function test, vitamin D, calcium, phosphate and alkaline phosphatase values were not included in the study. For those diagnosed with DDH, they were included in the group regardless of the type of treatment. No statistically significant difference was found between the groups in terms of age and weight (p>0.05). The very low and very high head circumferences were more frequent, and the normal head circumferences were less frequent in the DDH group (p<0.05). There was no significant difference between groups in terms of fontanel closure (p>0.05). In open fontanels, no significant difference was found in both groups in terms of age (p>0.05). Our study results showed no significant difference between the fontanel ossifications of children with and without DDH; however, we found that the ossification of the skull bones of children with DDH was different compared to healthy children.

Toulouse Lautrec syndrome: Report of a rare clinical entity

Pycnodysostosis, first described by Maroteaux and Lamy in the year 1962, is a rare autosomal recessive disorder. It is a lysosomal storage disease of the bone attributed to the mutation of the gene that is responsible for encoding the enzyme cathepsin K, thereby inhibiting the normal osteoclastic function, making the bones abnormally dense and brittle. We report a case of 30-year-old female herewith, who presented with characteristic features such as short stature, acro-osteolysis, open fontanelles, generalized osteosclerosis, and oral manifestations including grooved palate, malpositioned teeth with increased incidence of dental caries. There is an increased risk of mandibular fractures and osteomyelitis following invasive dental treatments. Thus, early diagnosis helps clinicians to manage patients with minimally invasive procedures preventing complications.

Pyknodysostosis- A Challenging Diagnosis

We report a case of a 7-year-old boy presented to us with short stature, born at full term by SVD with an immediate cry and a birth weight of 03 kg, breast-fed for 2 years. There are no apparent signs of development delay. By the age of two, the mother was concerned about physical and developmental delays.&#x0D; The patient had a male sibling with a history of repeated fractures and sensorineural hearing loss, labelled osteopetrosis.&#x0D; EXAMINATION:&#x0D; &#x0D; An active male child of 95cm and 12 kg falls below the 3rd centile.&#x0D; He had frontal bossing, mildly hypoplastic maxillae, a wide open fontanelle, and sutural diastasis.&#x0D; &#x0D; INVESTIGATIONS:&#x0D; &#x0D; Complete Blood Count, Thyroid profile, Serum Calcium, Phosphorus and Alkaline Phosphatase. All normal.&#x0D; A skeletal survey showed an increase in bone density. Sutural diastasis, multiple Wormian bones, thickening of the Calvaria, thickening of long bones with medullary sparing, and spool deformity of vertebral bodies.&#x0D; &#x0D; DIFFERENTIAL DIAGNOSIS&#x0D; &#x0D; Pyknodysostosis&#x0D; Hypothyroidism&#x0D; Osteopetrosis&#x0D; &#x0D; CONCLUSION:&#x0D; Additional X-rays, including the mandible, showed an obtuse angle, the clavicle was laterally deficient, and the hand showed acro osteolysis. The patient was diagnosed with a rare case of pyknodysostosis.

Point-of-care brain ultrasound and transcranial doppler or color-coded doppler in critically ill neonates and children.

In critically ill neonates, brain ultrasound for diagnosis and follow-up of the most common cerebral pathologies of the neonatal period may be considered the standard of care. Data are needed about the possible role of doppler techniques for the assessment of cerebral perfusion and vasoreactivity of the critically ill neonate with open fontanelles. In pediatric critical care, doppler based techniques should be routinely adopted to assess and monitor cerebral hemodynamics. New technologies and more evidence are needed to improve the accuracy of brain ultrasound for the assessment of brain parenchyma of critically ill children with fibrous fontanelles. • In critically ill neonates, brain ultrasound for early diagnosis and follow-up of the most common cerebral and neurovascular pathologies of the neonatal period is a cornerstone of daily practice. In critically ill children, doppler-based techniques are more routinely used to assess cerebral hemodynamics and autoregulation after acute brain injury and to screen patients at risk for vasospasm or stroke (e.g., sickle cell diseases, right-to-left shunts). • In critically ill neonates, research is currently focusing on the use of novel high frequency probes, even higher than 10 MHz, especially for extremely preterm babies. Furthermore, data are needed about the role of doppler based techniques for the assessment of cerebral perfusion and vasoreactivity of the critically ill neonate with open fontanelles, also integrated with a non-invasive assessment of brain oxygenation. In pediatric critical care, new technologies should be developed to improve the accuracy of brain ultrasound for the assessment of brain parenchyma of critically ill children with fibrous fontanelles. Furthermore, large multicenter studies are needed to clarify role and accuracy of doppler-based techniques to assess cerebral perfusion pressure and its changes after treatment interventions.

КЛИНИЧЕСКИЙ СЛУЧАЙ СИНДРОМА ЧЕРЕПНО-КЛЮЧИЧНОГО ДИЗОСТОЗА: КЛИНИЧЕСКИЕ И РЕНГЕНОЛОГИЧЕСКИЕ ПРОЯВЛЕНИЯ

Objectives. Clinical case in the practice of an oral and maxillofacial surgeon: a child with cranioclavicular dysostosis. This cider was first described in 1898 by P. Marie and P. Sainton. H. Scheuthauer described the pathological manifestations of skeletal anomalies in more detail. Steithauer–Marie–Sainton syndrome, or cranioclavicular dysostosis, involves aplasia or hypoplasia of the clavicles, delayed dentition, supernumerary teeth, and other skeletal abnormalities. In this syndrome, skeletal abnormalities include clavicular aplasia, or hypoplasia, bell-shaped chest, enlarged cranial vault with a convex frontal bone, open fontanelle, brachydactyly, pelvic hypoplasia, short stature, severe abnormal development of teeth with changes in occlusion, that is, this is a fairly severe hereditary pathology . Retention and dystopia of permanent teeth are associated with the presence of one or more supernumerary teeth on the upper and lower jaws.&#x0D; Purpose. Conducting an anthropometric, dental, and x-ray examination of a child with cranioclavicular dysostosis.&#x0D; Methodology. The article presents photographs of the child, pediatric and dental examination data, plain radiography of the chest and collarbones, orthopantomography of the upper and lower jaw, and a treatment plan for cranioclavicular dysostosis. Currently, due to a problem with teething, she consulted a dentist; after an examination, the child was referred to a maxillofacial surgeon.&#x0D; Conclusions. Cranioclavical dysostosis syndrome is a complex congenital pathology, the complex rehabilitation of which should involve not only doctors of all dental specialties, but also maxillofacial surgeons, orthopedists, pediatricians, neurologists, speech therapists, and medical psychologists.

Delayed closure of the anterior fontanelle in Iron Age children from Zaghunluq, northwestern China.

Delayed closure of the anterior fontanelle is often associated with various disorders. However, the phenomenon might be a normal variation. In this study, the anterior fontanelle was investigated in children from the Iron Age Zaghunluq cemetery in Xinjiang, northwestern China. Age at death was estimated by tooth development/eruption in the children. The anterior fontanelle was visually assessed for delayed fusion. Three out of nine children aged between 3-6 years old from the cemetery had signs of open anterior fontanelle. However, there were no signs of craniofacial pathology or developmental disruption. Delayed closure of the anterior fontanelle might have been a norm in the Iron Age Zaghunluq population. However, it is impossible to determine the reasons behind the high prevalence of delayed AF closure at Zaghunluq. Additional studies are warranted to determine whether this phenomenon is population specific, or diet specific, or just an individual variation.

Pycnodysostosis: In the Indian Population – A Case Report with Review of the Literature

Abstract Bone disorders having different causes, such as metabolic, genetic, and environmental, are well known and each of them has a characteristic clinical and radiographic appearance. Pycnodysostosis is one such rare bone disease that manifests as generalized osteosclerosis of the skeleton because of decreased bone turnover. Some of the unique radiographic and clinical features distinguish it from other bone disorders, such as osteogenesis imperfect, osteopetrosis, and cleidocranial dysplasia. Recognition of these signs is important to make a diagnosis and prevent further complications. We report a case of a 24-year-old male, who presented with a chief complaint of dirty and malaligned teeth and was unhappy with his facial appearance. General examination features which drew attention were short stature, beaking of the nose, and frontal and parietal bossing. Radiographically, open fontanelles, wormian bones, and dental abnormalities were evident.

A Scoping Review of Cerebral Doppler Arterial Waveforms in Infants.

Cerebral Doppler ultrasound has been an important tool in pediatric diagnostics and prognostics for decades. Although the Doppler spectrum can provide detailed information on cerebral perfusion, the measured spectrum is often reduced to simple numerical parameters. To help pediatric clinicians recognize the visual characteristics of disease-associated Doppler spectra and identify possible areas for future research, a scoping review of primary studies on cerebral Doppler arterial waveforms in infants was performed. A systematic search in three online bibliographic databases yielded 4898 unique records. Among these, 179 studies included cerebral Doppler spectra for at least five infants below 1 y of age. The studies describe variations in the cerebral waveforms related to physiological changes (43%), pathology (62%) and medical interventions (40%). Characteristics were typically reported as resistance index (64%), peak systolic velocity (43%) or end-diastolic velocity (39%). Most studies focused on the anterior (59%) and middle (42%) cerebral arteries. Our review highlights the need for a more standardized terminology to describe cerebral velocity waveforms and for precise definitions of Doppler parameters. We provide a list of reporting variables that may facilitate unambiguous reports. Future studies may gain from combining multiple Doppler parameters to use more of the information encoded in the Doppler spectrum, investigating the full spectrum itself and using the possibilities for long-term monitoring with Doppler ultrasound.

Pycnodysostosis- A Rare Diagnosis Not to Miss

Introduction: Pycnodysostosis derived from the Greek words pycnos-density, dys-defect, ostosis-bone is a rare inherited disorder of the bone with an incidence of 1.7 per million births. It is one of the lysosomal storage disorders with a deficiency of enzyme cathepsin K. Along with a history of repeated fractures of the bones, patients with Pycnodysostosis have a short stature, dolichocephalic skull, obtuse mandibular angle, short terminal phalanx. They also have dental abnormalities such as the delayed eruption of permanent teeth, and double rows of teeth. Mild psychomotor problems were noted in a few individuals. Pycnodysostosis is diagnosed by clinical and radiological features as there is no diagnostic criterion. Skulls show open fontanels, generalized osteosclerosis, loss of the normal angle of the jaw, and hypoplasia of facial bones. Social and occupational support needed to prevent recurrent fractures. Orthopaedic and orthodontic cares are needed. Case: A non-diabetic normotensive male of 63 years presented to the medicine outpatients department (OPD) with complaints of burning type, non-radiating moderate intensity pain in the epigastric region for three months following taking of NSAIDs. He gave a history of fractures of different bones following minimal trauma since his childhood and used to take NSAIDs every now and then. He did take orthopaedic consultation for those fractures but the underlying pathophysiology was not explored. Malunion of long bones resulted in a deformed limb. The rest of his past medical history and family history was unremarkable. On clinical examination, we found the patient had short stature with proportionately short limbs. He had dysmorphic features with a large head, small facial structures, frontal and bilateral parietal bossing. Examination of the oral cavity revealed a narrow high arched palate and hypoplastic, overcrowded teeth. His digits were short and stubby. The lower limbs of the patient have angular deformities that resulted from malunion of bones from previous fracture. Haematological and biochemical investigations were normal. Chest X-ray showed multiple ribs fracture on the right side. The patient's clavicle was normal in X-ray. Both tibia and fibula showed a malunited fracture in diaphysis. Computed tomography (CT) of the skull, as well as 3D reconstruction of CT, found open fontanelles and widening of sutures (Figure). Frontal and parietal bossing was noted. There was hypoplasia of the air sinuses. CT scans showed dysplasia of the bones of the face and hands. Hypoplasia was noted in the terminal phalanx of fingers. An endoscopy of the upper gastrointestinal tract found multiple erosion around the antrum of the stomach. Considering the clinical and radiological feature diagnosis of Pycnodysostosis with NSAIDs-induced antral erosion was made. The patient and his caregivers were briefed about the diagnosis. Consultation from a multidisciplinary team was done concerning his treatment. Conclusion: It is important to diagnose Pycnodysostosis early as it allows proper planning to prevent future fractures. While assessing a patient with short stature with a history of repeated bone fracture Pycnodysostosis should be considered along with other differentials.

Control of craniofacial development by the collagen receptor, discoidin domain receptor 2.

Development of the craniofacial skeleton requires interactions between progenitor cells and the collagen-rich extracellular matrix (ECM). The mediators of these interactions are not well-defined. Mutations in the discoidin domain receptor 2 gene (DDR2), which encodes a non-integrin collagen receptor, are associated with human craniofacial abnormalities, such as midface hypoplasia and open fontanels. However, the exact role of this gene in craniofacial morphogenesis is not known. As will be shown, Ddr2-deficient mice exhibit defects in craniofacial bones including impaired calvarial growth and frontal suture formation, cranial base hypoplasia due to aberrant chondrogenesis and delayed ossification at growth plate synchondroses. These defects were associated with abnormal collagen fibril organization, chondrocyte proliferation and polarization. As established by localization and lineage-tracing studies, Ddr2 is expressed in progenitor cell-enriched craniofacial regions including sutures and synchondrosis resting zone cartilage, overlapping with GLI1 + cells, and contributing to chondrogenic and osteogenic lineages during skull growth. Tissue-specific knockouts further established the requirement for Ddr2 in GLI +skeletal progenitors and chondrocytes. These studies establish a cellular basis for regulation of craniofacial morphogenesis by this understudied collagen receptor and suggest that DDR2 is necessary for proper collagen organization, chondrocyte proliferation, and orientation.

The Bat Child

Case Report A short stature 10 year old boy with pes planus, mild hearing loss, failure of exfoliation of the primary dentition, anterior hyperdontia, malocclusion and open anterior fontanelle was observed in Pediatric Orthopedics consultation, and presenting the following alterations (image). Discussion This child has cleidocranial dysplasia (CCD). Is an autosomal dominant disease caused by an heterozygous loss-of-function mutation in the RUNX2 gene, encoding transcription factor CBFA1, on chromosome 6p21, which plays an important role in osteogenesis and differentiation of osteoblasts. The main clinical features include persistently open skull sutures, hypoplasia or aplasia of the clavicles permitting abnormal facility in opposing the shoulders, short middle phalanx of the fifth fingers, dental anomalies (supernumerary teeth, failure of exfoliation of the primary dentition and malocclusion), pes planus, upper respiratory complications, recurrent otitis media, hearing loss and often vertebral malformation (scoliosis). Conclusion The clinical diagnosis of CCD was made during pregnancy, through the detection of aplasia of the clavicles in fetu, in association with the mother having short stature (1.32 meters), persistence of primary teeth and open anterior fontanelle. With 10 years of age, he underwent mendilioma study which revealed the mutation in the RUNX2 gene (c. 747 del (p.(Arg251 Alafs*7))) classified as a pathogenic variant.

Increased Nuchal Translucency Without Aneuploidy in a Fetus: Abnormal Postnatal Radiograph and a Novel Mutation.

Increased Nuchal Translucency Without Aneuploidy in a Fetus: Abnormal Postnatal Radiograph and a Novel Mutation.

Fetal Disseminated Malignant Rhabdoid Tumor.

Fetal Disseminated Malignant Rhabdoid Tumor.

Cleidocranial Dysostosis- A Case Report

Objective: First report of cleidocranial dysostosis (CCD), a rare genetic disorder, in Ghana. Case report and intervention: The condition presented in a 13 year old boy with most of the classical features. He had cranial features in the form of open fontanelles, underdeveloped paranasal air sinuses and hypertelorism. Thoracic features were severelyunderdeveloped clavicles which allowed him to appose both shoulders in the midline. He had an open bite, several unerupted permanent teeth and several retained teeth most of which were discoloured which was why he was seen at the Dental department. After restoration of some of these teeth the patient was very satisfied.Conclusion: Though the definitive treatment in these patients can be sophisticated major craniofacial surgery, early restoration of malformed teeth can help ease patient’s anxiety and improve quality of life.

Brain death in children: is computed tomography angiography reliable as an ancillary test?

The diagnosis of brain death is primarily clinical. Sometimes ancillary tests are needed. This study compared sensitivity and interobserver agreement of the 10-, 7- and 4-point CT angiography scoring systems for the diagnosis of brain death in children. CT angiography examinations of 50 pediatric patients with a clinical diagnosis of brain death were evaluated according to 10-, 7- and 4-point scoring systems. Images were evaluated by two radiologists who considered the vessel opacification first in the arterial phase (A0-V50) and then in the venous phase (A0-V50). We evaluated interobserver agreement for the assessment of vessel opacification and diagnosis of brain death. We compared the differences among brain death diagnoses between children with craniotomy-craniectomy defects, open fontanelles and preserved bone integrity. We subdivided children into two groups according to age: ≤ 2years and > 2years. We calculated sensitivities according to age groups. Using the clinical exam as the reference standard, we found sensitivities for 10-, 7- and 4-point scoring systems to be 70%, 88% and 92% in the A0-V50 method and 40%, 82% and 82% in the A50-V50 method, respectively. Percentage agreement between readers was 78% for the 7-point scale using the A0-V50 method and more than 90% for other scoring systems for both the A0-V50 method and the A50-V50 method. The sensitivity was much lower in children with open anterior fontanelles compared to the groups with preserved bone integrity and with a craniotomy-craniectomy defect. Just as in adult age groups, in children the 4-point scale appears to be more sensitive than the 10- and 7-point scales for CT angiography-based assessment of brain death. Because the scoring systems have similar sensitivities, they could be used as ancillary tests in pediatric cases.

Abstract 146: Cleidocranial dysplasia: A rare cause of severe short stature

Background: Cleidocranial dysplasia (CCD) is a rare autosomal dominant skeletal dysplasia due to Runx 2 mutation with 1:1,000,000 incidence, characterized by hypoplastic clavicles, delayed closure of the cranial sutures, dental abnormalities, and short stature.Aims and Objectives: We report a case of 11year old boy presenting with short stature and classical features of cleidocranial dysplasia.Results: A 11 year boy with poor height gain since 2 years of age, was found to have severe disproportionate short stature with deciduous teeth, supernumerary teeth, midfacial hypoplasia, flattened nasal bridge, hypertelorism, high arched palate, short thumbs, clinodactyly and anterior apposition of shoulders. Skeletal survey confirmed these findings, along with Brachycephaly with open fontanelles, clavicular hypoplasia, bell shaped thorax, hypoplasia of the pelvis with widened symphysis pubis, coxa vara, pseudoepiphysis of 2nd metacarpal and severe dental anomalies.Conclusion: A thorough history and examination with radiological support will help in timely diagnosis of CCD in children and adequate treatment.

A robotic magnetic resonance-guided high-intensity focused ultrasound platform for neonatal neurosurgery: Assessment of targeting accuracy and precision in a brain phantom.

Intraventricular hemorrhage (IVH) is one of the most serious neurovascular complications resulting from premature birth. It can result in clotting of blood within the ventricles, which causes a buildup of cerebrospinal fluid that can lead to posthemorrhagic ventricular dilation and posthemorrhagic hydrocephalus. Currently, there are no direct treatments for these blood clots as the standard of care is invasive surgery to insert a shunt. Magnetic resonance-guided high-intensity focused ultrasound (MRgHIFU) has been investigated as a noninvasive treatment to lyse blood clots. However, current MRgHIFU systems are not suitable in the context of treating IVH in neonates. We have developed a robotic MRgHIFU neurosurgical platform designed to treat the neonatal brain. This platform facilitates ergonomic patient positioning and directs treatment through their open anterior fontanelle while providing a larger treatment volume. The platform is based on an MR-compatible robot developed by our group. Further development of the platform has warranted investigation of its targeting ability to assess its feasibility in the neonatal brain. This study aimed to quantify the platform's targeting accuracy, precision, and repeatability using a brain phantom and clinical MRI system. A thermosensitive brain-mimicking phantom was developed to test the platform's targeting accuracy. Rectangular grid patterns were created with HIFU thermal energy "lesions" in the phantoms by targeting specific coordinate points. The intended target locations were demarcated by inserting carbon fiber rods through a targeting assessment template. Coordinates for the intended and actual targets were derived from T2-weighted MRI scans, and the centroid distance between them was measured. Subsequently, the platform's targeting accuracy was quantified according to equations derived from ISO Standard 9283:1998. HIFU ablation resulted in distinct thermal lesions within the thermosensitive phantoms, which appeared as discrete hypointense regions in T2-weighted MR scans. A total of 127 target points were included in the data analysis, which yielded a targeting accuracy of 0.6mm and targeting precision of 1.2mm. The robotic MRgHIFU platform was shown to have a high degree of accuracy, precision, and repeatability. The results demonstrate the platform's functionality when targeting through simulated brain matter. These results serve as an initial verification of the platform targeting ability and showed promise toward the final application in a neonatal brain.

Central Nervous System Tumors in Children.

Central Nervous System Tumors in Children.