Multi-directional Cranial Distraction Osteogenesis for Treating Sagittal Synostosis with Frontometaphyseal Dysplasia: A Case Report.
Ontology highlight
ABSTRACT:
SUBMITTER: Morishita Y
PROVIDER: S-EPMC8078314 | biostudies-literature |
REPOSITORIES: biostudies-literature
Similar Datasets
Project description:The rapid growth of the brain in the first few years of life drives the expansion of the cranial vault. This expansion occurs primarily at the cranial sutures; premature fusion of these results in growth restriction perpendicular to the axis of the suture. The result of this is physical deformation of the cranial and facial skeleton, as well as the distortion of the underling brain and its physiology. These patients can present with symptoms of raised intracranial pressure, neurodevelopmental delay, as well as the morphological features of craniosynostosis. Acquired conditions such as the slit ventricle syndrome may also result in cephalocranial disproportion with these clinical features. Traditional vault remodeling surgery is able to correct the physical abnormalities as well as correcting cephalocranial disproportion. Its limitations include the degree of scalp expansion achievable as well as resulting defects in the bone. The use of distraction osteogenesis of the cranial vault permits a controlled expansion in a predetermined vector in a gradual manner. When used in the calvarium, this combines the benefits of tissue expansion on the scalp, as well as stimulating the production of new bone, reducing the defects resulting from expansion. In this review, the authors describe some of the surgical considerations important to the use of this technique. This includes the relevant anatomy and technical aspects illustrated with the use of clinical cases. Finally, they present a summary of their experience and discuss the complications associated with cranial vault distraction osteogenesis.
| S-EPMC4219914 | biostudies-other
Project description:Background:Bilambdoid and sagittal synostosis (BLSS), also called "Mercedes Benz synostosis," is a multisutural craniosynostosis that has been described as a specific entity. However, this synostotic pattern can also be found in syndromic craniostenosis. To better define this entity we reviewed our experience with bilambdoid and sagittal synostosis. Methods:We searched our prospective database for cases of bilambdoid and sagittal synostosis among all types of craniosynostosis. Two groups were distinguished - patients with isolated BLSS and the group of syndromic craniostenosis for whom BLSS was observed at initial presentation. We reviewed the clinical findings, associated diseases, and their management specifically for isolated BLSS patients. Results:Thirty-nine patients were diagnosed with bilambdoid and sagittal synostosis among 4250 cases of craniosynostosis treated in our department over a period of 42 years. Among them, 8 were finally diagnosed as Crouzon syndrome. Of the 31 patients identified with isolated bilambdoid and sagittal synostosis, 25 (81%) were males and 6 (19%) were females. The average age at diagnosis was 17 months. At diagnosis, 16% of the population presented with papillary edema and 58% posterior digitate impressions. Two types of craniofacial dysmorphy were observed - a pattern with narrow occiput (71% of cases) and a pattern with dolichocephaly (29% of cases). Cerebellar tonsillar herniation was the most frequently associated malformation (61% of the isolated BLSS). Surgical management evolved during the years, and several surgical techniques were used to treat patients with BLSS, including isolated biparietal vault remodeling, posterior vault remodelling, and posterior vault expansion with internal or external distraction. In some cases, a craniocervical junction decompression was also performed. The mean follow-up was 82 months (7 years). The overall mental development was within normal limits in most children, but a mental delay was found in 25%. Conclusion:Bilambdoid and sagittal synostosis constitute an isolated entity in almost 80% of the cases, whereas in the remaining 20% it is part of a faciocraniosynostosis syndrome. Two phenotypes may be found. Early surgical management is indicated, and several techniques can be used in this heterogeneous population. A cerebellar tonsillar prolapse is present in a majority of cases.
| S-EPMC6194734 | biostudies-other
Project description:Herein, we present a rare case of co-occurring Duchenne muscular dystrophy (DMD) and frontometaphyseal dysplasia 1 (FMD1), two different X-linked diseases, in a 7-year-old boy. He presented with proximal muscle weakness and elevated creatine phosphokinase levels. A multiplex ligation-dependent probe amplification study of DMD revealed the de novo duplications of exons 2-37, thereby confirming the diagnosis of DMD. Initial evaluation revealed atypical features, such as facial dysmorphism, multiple joint contractures, and severe scoliosis, at an early age. However, these were overlooked and were assumed to be atypical manifestations of DMD. Then, the patient's maternal cousin was diagnosed with FMD1 with pathogenic missense variant in FLNA (NM_001110556.2: c.3557C>T/p.Ser1186Leu). A family genetic test revealed that the patient and his mother had the same pathogenic variant in FLNA. The patient's atypical manifestations were considered symptoms of FMD1. Therefore, if one disease does not fully explain the patient's clinical features, an expanded genetic study is needed to detect coincidental disease.
| S-EPMC7952453 | biostudies-literature
Project description:Frontometaphyseal dysplasia 1 (FMD1) is a rare otopalatodigital spectrum disorder (OPDSD) that is inherited as an X-linked trait and it is caused by gain-of-function mutations in the FLNA. It is characterized by generalized skeletal dysplasia, and craniofacial abnormalities including facial dysmorphism (supraorbital hyperostosis, hypertelorism, and down-slanting palpebral fissures). The involvement of the central nervous system in patients with OPDSD is rare. Herein, we present the case of a 12-year-old boy with facial dysmorphism, multiple joint contractures, sensorineural hearing loss, scoliosis, craniosynostosis, and irregular sclerosis with hyperostosis of the skull. Brain and whole-spine magnetic resonance imaging revealed Chiari I malformation with extensive hydrosyringomyelia from the C1 to T12 levels. Targeted next-generation sequencing identified a hemizygous pathologic variant (c.3557C>T/p.Ser1186Leu) in the FLNA, confirming the diagnosis of FMD1. This is the first report of a rare case of OPDSD with pansynostosis and Chiari I malformation accompanied by extensive syringomyelia.
| S-EPMC8280522 | biostudies-literature
Project description:Distraction osteogenesis is an effective method for generating large amounts of bone in situ for treating pathologies such as large bone defects or skeletal malformations, for instance leg-length discrepancies. While an optimized distraction procedure might have the potential to reduce the rate of complications significantly, our knowledge of the underlying mechanobiological processes is still insufficient for systematic optimization of treatment parameters such as distraction rate or fixation stiffness. We present a novel numerical model of lateral distraction osteogenesis, based on a mechanically well-controlled in vivo experiment. This model extends an existing numerical model of callus healing with viscoplastic material properties for describing stress relaxation and stimuli history-dependent tissue differentiation, incorporating delay and memory effects. A reformulation of appositional growth based non-local biological stimuli in terms of spatial convolution as well as remeshing and solution-mapping procedures allow the model to cope with severe mesh distortions associated with large plastic deformations. With these enhancements, our model is capable of replicating the in vivo observations for lateral distraction osteogenesis in sheep using the same differentiation rules and the same set of parameters that successfully describes callus healing in sheep, indicating that tissue differentiation hypotheses originally developed for fracture healing scenarios might indeed be applicable to distraction as well. The response of the model to modified distraction parameters corresponds to existing studies, although the currently available data is insufficient for rigorous validation. As such, this study provides a first step towards developing models that can serve as tools for identifying both interesting research questions and, eventually, even optimizing clinical procedures once better data for calibration and validation becomes available.
| S-EPMC5854389 | biostudies-literature
Project description:Mandibular distraction has revolutionized the treatment of Robin sequence associated with severe airway obstruction. The distraction technique remains the only intervention that directly corrects mandibular hypoplasia and the retropositioned tongue, providing efficient relief of airway stenosis. Multiple studies have demonstrated the efficacy of distraction in avoiding tracheostomy and decreasing the severity airway obstruction in this patient population. The benefit to avoiding tracheostomy and relieving airway obstruction is superior to that of tongue-lip adhesion. It is, therefore, not surprising that mandibular distraction has become the first-line intervention at many centers for the surgical treatment of Robin sequence. The complication profile associated with mandibular distraction appears low; the most common complication is infection, which can be treated by antibiotics alone. The severity of airway obstruction can be quantified by polysomnogram: This tool has become one of the most widely used objective metrics in the Robin sequence population. Therefore indications for surgery, timing of palatoplasty and long-term assessment of airway function should be performed in conjunction with sleep study analysis. The effects of mandibular lengthening on feeding difficulty in Robin sequence patient remains a topic of controversy. Studies have demonstrated conflicting results: This can be an area of future study. Agreed-upon indications for surgery and definitive protocols of care have yet to be formulized; future research should focus on achieving these goals. Such studies would require agreed-upon terminology for Robin sequence, an increase in comparative and prospective analysis, and the use of quantifiable metrics of clinical results.
| S-EPMC4219917 | biostudies-other
Project description:Background: Interfragmentary movements have benefits in the improvement of bone formation during distraction osteogenesis (DO). Although several clinical studies reported positive outcomes regarding the application of the cyclic distraction-compression (CDC) dynamization technique in cases with poor bone formation during DO, they are mostly anecdotal without a detailed description. The purpose of this study was to investigate the effectiveness and potential mechanism of different amplitudes and rates of the CDC technique on bone regeneration in a rat femur DO model. Methods: A total of 60 adult male Sprague-Dawley rats underwent right femoral mid-diaphysis transverse osteotomy and were randomly and evenly divided into Control (no manipulation), Group1 (CDC therapy), Group2 (CDC therapy with larger amplitude), and Group3 (CDC therapy with a slower rate) after distraction. The CDC technique was performed during the middle phase of the consolidation period according to different protocols. Animals were sacrificed after 4 and 6 weeks of consolidation. The process of bone formation was monitored by digital radiographs, and the regenerate bone was evaluated by micro-computed tomography (micro-CT), biomechanical test, and histological analysis. The serum contents of hypoxia-inducible factor (HIF)-1α and vascular endothelial growth factor (VEGF) were measured by enzyme-linked immunosorbent assay (ELISA). Results: Bone regeneration after the CDC technique was improved significantly during DO. The digital radiograph, micro-CT, histomorphological analysis, and biomechanical evaluation showed better effects regarding volume, continuity, and mechanical properties of the regenerate bone in Group2 and Group3 when compared to Group1. The angiogenic and osteogenic markers were more highly expressed in Group2 and Group3 than in Group1 according to the immunohistochemical analysis. As for ELISA, the serum contents of HIF-1α and VEGF were also increased after the CDC technique, especially in Group2 and Group3. Conclusion: The CDC dynamization technique has benefits on the improvement of bone formation during DO, and the mechanism may be due to tissue hypoxia activating the HIF pathway followed by the augmentation of osteogenic-angiogenic coupling. Better outcomes may be achieved by moderately increasing the amplitude and slowing down the rate of the CDC technique.
| S-EPMC8806138 | biostudies-literature
Project description:In the field of orthopedic surgery, distraction osteogenesis (DO) is well known for limb lengthening procedures or secondary corrective surgery in the fracture treatment of the extremities. The principle of gradual expansion of bone and surrounding soft tissues as originally described by G.A. Ilizarov is also applicable to the craniofacial skeleton when growth deficiency is present, and the patients affected by craniofacial or dentofacial anomalies may require distraction procedures. The surgical management is comparable. After osteotomy and the mounting of a specific craniomaxillofacial distraction device, active distraction is started after a latency phase of several days, with a distraction rate of up to 1 mm/day until the desired amount of distraction has been achieved. Subsequently, distractors are locked to provide appropriate stability within the distraction zone for callus mineralization during the consolidation phase of 3-6 months, which is followed by a further remodeling of the bony regenerate. After 14 years of clinical application, the role and significance of craniomaxillofacial DO are discussed after reviewing the files of all patients who were treated by craniomaxillofacial distraction procedures.
| S-EPMC6753988 | biostudies-literature
Project description:Filamin-mediated linkages between transmembrane receptors (TR) and the actin cytoskeleton are crucial for regulating many cytoskeleton-dependent cellular processes such as cell shape change and migration. A major TR binding site in the immunoglobulin repeat 21 (Ig21) of filamin is masked by the adjacent repeat Ig20, resulting in autoinhibition. The TR binding to this site triggers the relief of Ig20 and protein kinase A (PKA)-mediated phosphorylation of Ser-2152, thereby dynamically regulating the TR-actin linkages. A P2204L mutation in Ig20 reportedly cause frontometaphyseal dysplasia, a skeletal disorder with unknown pathogenesis. We show here that the P2204L mutation impairs a hydrophobic core of Ig20, generating a conformationally fluctuating molten globule-like state. Consequently, unlike in WT filamin, where PKA-mediated Ser-2152 phosphorylation is ligand-dependent, the P2204L mutant is readily accessible to PKA, promoting ligand-independent phosphorylation on Ser-2152. Strong TR peptide ligands from platelet GP1bα and G-protein-coupled receptor MAS effectively bound Ig21 by displacing Ig20 from autoinhibited WT filamin, but surprisingly, the capacity of these ligands to bind the P2204L mutant was much reduced despite the mutation-induced destabilization of the Ig20 structure that supposedly weakens the autoinhibition. Thermodynamic analysis indicated that compared with WT filamin, the conformationally fluctuating state of the Ig20 mutant makes Ig21 enthalpically favorable to bind ligand but with substantial entropic penalty, resulting in total higher free energy and reduced ligand affinity. Overall, our results reveal an unusual structural and thermodynamic basis for the P2204L-induced dysfunction of filamin and frontometaphyseal dysplasia disease.
| S-EPMC5437244 | biostudies-literature
Project description:Frontometaphyseal dysplasia (FMD) type 2 is an autosomal dominant disorder characterized by skeletal abnormalities and caused by MAP3K7 mutation. We identified a novel missense mutation in TAB2 associated with FMD in a child with multiple congenital malformations. This case was diagnosed as FMD due to joint contractures and bone deformities. This is the third report of FMD caused by a TAB2 mutation located in the TAK1-binding region.
| S-EPMC8556374 | biostudies-literature