Various Types Of Craniosynostosis Research Articles

Cognitive performance of preschool children with different types of non-syndromic craniosynostosis

AbstractBackground:Craniosynostosis is defined as a premature fusion of one or more cranial sutures. Several studies have revealed cognitive deficits in some children who had undergone surgery to treat craniosynostosis. However, no general distinction has been drawn in the cognitive abilities between the various types of craniosynostosis. The purpose of the present study was to analyze if there is a difference in cognitive and motor function among the different types of non-syndromic craniosynostosis in preschool children.Methods:Twenty-seven children with different types of non-syndromic craniosynostosis were assessed using the Wechsler Preschool and Primary Scale of Intelligence – Third Edition, as well as the Quantitative, Memory and Motor scales of McCarthy Scales of Children’s Abilities (MSCA). The children were aged between 3 and 5 years and 11 months. The various types of craniosynostosis were compared.Results:The unicoronal synostosis group performed significantly worse than the multisuture synostosis group on the MSCA Motor scale. No differences in cognitive functions were found between the various types of craniosynostosis.Conclusions:Children with unicoronal synostosis may experience impaired motor skills and screening of their motor ability is recommended.

S16-01 SESSION 16: PLANNING/IMAGING – PART II QUANTIFICATION OF HEAD SHAPE FROM 3D PHOTOGRAPHY FOR AUTOMATIC DETECTION OF CRANIOSYNOSTOSIS

Introduction: Although suture fusion in patients with craniosynostosis can be identified from CT images, these are typically acquired after detecting symptoms to avoid radiation. 3D photography has gained popularity in craniofacial imaging as a cheap and non-invasive modality. We present a method to automatically detect and quantify head malformations caused by craniosynostosis from 3D photographs. Methods: We collected CT images of 201 subjects without cranial pathology (age 1.93 ± 1.69 years) and 217 with various types of craniosynostosis (age 0.69 ± 1.16 years), and 3D photographs of 89 patients with craniosynostosis (age 1.17 ± 1.85 years) acquired with the 3DMDhead scan. We used image processing to segment the head from CT and 3D photography, and to label the cranial bones from CT automatically. The region of each cranial bone in 3D photography was determined using a reference template. We created a normative statistical head shape model from the subjects without pathology using principal component analysis. We calculated local head malformations for each patient by comparing their head shape with its projection on the statistical model using distances and curvature differences, and compared these values obtained from CT and from 3D photography using a paired Wilcoxon rank-sum test on a dataset of patients with both pre-operative CT image and 3D photograph (N=34). We used these metrics calculated our entire dataset to train a support vector machine classifier to distinguish between subjects with and without craniosynostosis using their head shapes, and to determine the type of craniosynostosis in patients with single suture fusion. We evaluated the accuracy of our methods using cross-validation. Results: We obtained similar quantifications of distances and curvature differences from normality from CT images and from 3D photographs using our paired dataset (p-values 0.39 and 0.44, respectively). We found significant differences in these metrics with respect to the normative model at all cranial bones in patients with sagittal fusion, and at the frontal area in patients with metopic or coronal fusion (p<0.001). We obtained 95.5% sensitivity and 95.5% specificity identifying patients with craniosynostosis with our classifier. In addition, we obtained 99.6% sensitivity and 99.3% specificity identifying the fused suture in patients with single fusion. Conclusion: Quantitative image analysis can identify and classify cranial malformations caused by craniosynostosis from 3D photography. Our approach has the potential to detect subtle malformations without radiation and before patients become symptomatic.

Absorbable sutures for the achievement of stable osteosynthesis in surgery for craniosynostosis.

The goal of the present study was to analyse the exclusive use of absorbable suture material (Vicryl) in the fixation of transposed bone segments in cranial vault reshaping without modification of the osteotomy design. In the surgical correction of craniosynostosis, bone fixation using osteosynthesis is a key step. Absorbable osteosynthesis is a widespread tool in cranial vault remodelling, but only a limited number of studies have described the use of absorbable sutures in the treatment of patients with craniosynostosis. In 72 children with various types of craniosynostosis, up to 24 months of age, osteosynthesis was conducted exclusively with Vicryl sutures. All patients were evaluated for the stability of postoperative results, and foreign body reactions were examined as part of the routine clinical and radiological follow-up ranging from 1 to 36 months. All examined children exhibited stable postoperative conditions with immediate stability of all remodelled cranial vaults. 2D and 3D radiological examinations demonstrated good bony union in all cases. Significant foreign body reactions were not observed and bone healing was noted at all sites. The exclusive application of absorbable suture material enables stable and cost-effective osteosynthesis in craniofacial surgery without altering the osteotomy design.

Diagnosis and treatment of craniosynostosis: Vilnius team experience

Background. The aim of the study was to review the methods of diagnosis of craniosynostosis and to analyze Vilnius (Lithuania) team experience of surgical treatment, surgical methods, aspects of anesthesia for patients with craniosynostosis and to present early results of surgical treatment. Materials and methods. A retrospective review of all patients with various types of craniosynostosis treated surgically during the period from 1 January 2009 to 31 December 2014 was performed. The following data were analyzed: age, type of deformity, surgical technique, surgical time, methods and course of anesthesia, intra- and postoperative complications, parents’ satisfaction, head form. Results. 24 patients were treated. The mean patient’s age at the time of surgery was 13.47 ± 8.2 months (min 7.3, max 46.5). Eliminating 3 patients whose age at the time of surgery was over 2 years (24.5, 29 and 46 months, respectively), the mean age of other 21 patients was 10.63 ± 1.77 (min 7.3, max 14.1) months. There were 9 cases of isolated trigonocephaly (37.5%), 7 cases of isolated scaphocephaly (29.2%), 7 cases of isolated anterior plagiocephaly (29.2%) and 1 case of posterior plagiocephaly combined with scaphocephaly (4.17%). All craniosynostoses were diagnosed clinically and diagnosis was confirmed with computed tomographic scanning. The median duration of surgery was 336.47 ± 59.63 minutes (min 308.13, max 364.82). The medium stay in the intensive care unit was 2.53 ± 1.28 days (min. 1.92, max 3.14). In all cases rigid osteosynthesis was performed. 2 children were diagnosed with syndromic craniofacial abnormalities. In 23 (95.83%) cases an intraoperative or postoperative blood transfusion was required. In 24 treated patients there was no mortality. During the early and late postoperative period no infections, CSF leakage and dural tears were observed. No neurological impairments or any signs of neurological deficits were observed by any of the treated patients. In all of cases parents were satisfied with their children’s changed head shape and aesthetic results. Conclusions. Cranioplasties for correction of craniosynostosis give good aesthetic results and this is a safe method, which helps to correct the head shape as well as improves the social adaptation of patients.

The value of ultrasound-assisted pinned resorbable osteosynthesis for cranial vault remodelling in craniosynostosis

Resorbable osteosynthesis is a widespread tool in craniofacial surgery, however only a limited number of studies have focused on ultrasound-assisted pinned resorbable systems in the treatment of craniosynostosis.Thirty-eight children with various types of craniosynostosis including scaphocephaly, trigonocephaly, anterior and posterior plagiocephaly were treated using the Sonic Welding resorbable osteosynthesis system. All patients were evaluated for operation time, stability of the surgical results, rate of local infections and visibility or palpability of the osteosynthesis material in the follow-up ranging from 15 to 21 month.Mean operation time was not significantly higher compared to conventional osteosynthesis material and all remodelled cranial vaults showed immediate stability. Only one patient showed signs of an inflammatory skin reaction, which recovered spontaneously. The number of palpable or visible plates, respectively, increased during the first months with a maximum at 12 months (34 (89%) plates palpable, 26 (68%) plates visible). After this time point, the number decreased continuously until the end of the follow-up period at 21 months when 3 (20%) plates were palpable, 0 (0%) plates were visible).Ultrasound-assisted pinned resorbable systems seem to be a promising tool in craniofacial surgery providing a timesaving and stable osteosynthesis. An initial swelling of the plates during the first 12 months before the complete degradation might result in a palpable and visible bulge.

Audiological Profile of Children and Young Adults With Syndromic and Complex Craniosynostosis

To determine syndrome-specific type, severity, and prevalence of hearing loss to facilitate follow-up and treatment. Tertiary pediatric hospital craniofacial clinic survey study. If insufficient or no data were available for a child, he or she was referred to an audiologist for pure-tone audiometry. Academic research facility. Information was gathered regarding 132 children and young adults with craniosynostosis. The primary outcome was hearing assessment of children and young adults with various types of craniosynostosis. A secondary outcome was inference regarding the incidence of otitis media among children and young adults with craniosynostosis. We found mild or moderate hearing loss in 44.0% of patients with Apert syndrome, in 28.5% with Crouzon syndrome, in 62.1% with Muenke syndrome, in 28.6% with Saethre-Chotzen syndrome, and in 6.7% with complex craniosynostosis. Hearing loss was conductive in most patients with Apert, Crouzon, and Saethre-Chotzen syndromes and it was predominantly sensorineural in patients with Muenke syndrome. Sensorineural hearing loss at lower frequencies was found only in patients with Muenke syndrome. Most patients with syndromic and complex craniosynostosis have recurrent otitis media with effusion, causing episodes of conductive hearing loss throughout their lives. Sensorineural hearing loss can occur in all 4 syndromes studied but is the primary cause of hearing loss in children and young adults with Muenke syndrome. For patients with these syndromes, we recommend routine visits to the general practitioner or otolaryngologist, depending on national standards of care, to screen for otitis media with effusion throughout life. We also advise early screening for sensorineural hearing loss among children and young adults with these syndromes.

Concurrent repair of orbital shallowness with craniosynostosis surgery: two late cases of simultaneous orbital decompression

Early closure of cranial sutures results in various types of cranial vault deformities, named craniosynostosis. Although mostly associated with syndromic cases, bony orbit deformities such as exorbitism can be seen with various types of craniosynostosis. This condition can be associated with papilledema and besides its effect on the patient's appearance can cause subluxation of the globe, lagophthalmos or keratitis resulting in corneal ulcers and ultimately loss of vision. Various techniques have been proposed for repair or exorbitism such as fronto-orbital advancement procedures, orbital wall decompression, periosteum scoring and tissue excision. Orbital periosteal scoring covering the globe can be extremely efficient for orbital fat decompression when combined with other orbital volume expanding procedures. We hereby present two late cases of craniosynostosis associated with bilateral exorbitism due to orbital shallowness for which cranial vault reconstruction was performed simultaneously with combinations of fronto-orbital advancement, orbital decompression and periosteal scoring. The late referral of these patients at ages older than the usual time of operation indication made the surgical procedure for craniosynostosis repair and exorbitism treatment challenging. The combined and simultaneous use of bone advancement, orbital wall decompression and specially periosteum scoring can be highly efficient in the treatment of exorbitism associated with craniosynostosis.

Rotating Distraction Osteogenesis in 23 Cases of Craniosynostosis: Comparison with the Classical Method of Craniotomy and Remodeling

Background: The currently employed technique of distraction osteogenesis (DO) for the surgical treatment of craniosynostosis (CS) is commonly performed due to advantages such as shorter operation time, less bleeding and thus less need for transfusions and a lower risk of infections. Several surgical techniques for the various types of CS have been reported, but a uniform surgical method is as yet unavailable. Methods: We compared 23 patients who underwent rotating DO (RDO) with 15 patients who received conventional craniotomy and remodeling (CR). RDO consisted of suturectomy of the pathologic suture and resection of the bone flap to allow wide suture separation for distraction and open-door rotation. Results: The mean operation duration in the RDO group was 255.9 ± 97.8 min, which was significantly shorter than the 414.0 ± 106.9 min for the CR group (p = 0.0001). Perioperative complications in the RDO group consisted of 2 cases of distractor breakage and 2 cases of minimal pus discharge, while in the CR patients there was 1 case of postoperative epidural hematoma and 1 case of spontaneous bone fracture. Conclusion: We suggest that RDO may be a valid and efficient method for treating children with CS by DO by expanding the intracranial volume and correcting abnormal skull contour shapes.

Visual function in nonsyndromic craniosynostosis: past, present, and future

Previous studies on visual function in craniosynostosis have mainly focused on ocular movements and ophthalmologic findings. More recently, some studies also included the assessment of more functional and electrophysiological aspects of vision, such as acuity and visual evoked potentials. We reviewed all the relevant publications on visual findings in infants and children with both syndromic and nonsyndromic craniosynostosis and reported our own recent experience on the presurgical assessment of visual function in infants with single suture nonsyndromic craniosynostosis. Most studies report abnormal ophthalmologic findings, mainly strabismus and refractive deficits. Only few recent studies, including ours, have reported the impairment of more functional aspects of vision, such as visual acuity and visual evoked potentials in relation to the various forms of craniosynostoses. We suggest a few guidelines for further studies, which may help to better elucidate the mechanisms underlying possible visual impairment in the various types of craniosynostosis.

New Zealand Maori family with the pro250arg fibroblast growth factor receptor 3 mutation associated with craniosynostosis

Background: A large New Zealand Maori family has non-syndromic coronal craniosynostosis, which is inherited as an autosomal dominant mutation with variable expression. The aim of the study is to determine whether the family has the pro250 arg mutation in the gene for fibroblast growth factor receptor 3 (FGFR3), a mutation found in patients with various types of craniosynostosis. Patients: Fourteen members of a New Zealand Maori family were evaluated, of whom five have coronal synostosis. A family pedigree tracing six generations was recorded. Methods: Blood samples were drawn for genomic DNA analysis from 14 family members. Polymerase chain reaction, restriction-enzyme digestion and DNA sequencing was performed to identify the pro250arg mutation in FGFR3. Results: Seven family members were heterozygous for the pro250arg mutation in FGFR3. The mutation showed autosomal dominance with reduced penetrance and variable expressivity. Conclusion: Our data and those of other investigators suggest that we should begin integrating molecular diagnosis with phenotypic diagnosis of craniosynostoses.

A unique point mutation in the fibroblast growth factor receptor 3 gene (FGFR3) causes non‐syndromic craniosynostosis

A unique Pro250Arg mutation in fibroblast growth factor receptor 3 (FGFR3) was recently found in patients with non‐syndromic craniosynostosis. We studied 18 Taiwan Chinese patients with various types of craniosynostosis to evaluate if this mutation is also prevalent in the Chinese population. Genomic DNA was analysed by polymerase chain reaction based restriction analysis and direct sequencing to identify the Pro250Arg mutation in FGFR3. Five (28%) of 18 probands were heterozygous for the Pro250Arg mutation. Only those patients with coronal synostosis carried this mutation.Conclusion: Our findings suggest that all patients with coronal synostosis should be examined for this unique mutation.

A unique point mutation in the fibroblast growth factor receptor 3 gene (FGFR3) causes non-syndromic craniosynostosis.

A unique Pro250Arg mutation in fibroblast growth factor receptor 3 (FGFR3) was recently found in patients with non-syndromic craniosynostosis. We studied 18 Taiwan Chinese patients with various types of craniosynostosis to evaluate if this mutation is also prevalent in the Chinese population. Genomic DNA was analysed by polymerase chain reaction based restriction analysis and direct sequencing to identify the Pro250Arg mutation in FGFR3. Five (28%) of 18 probands were heterozygous for the Pro250Arg mutation. Only those patients with coronal synostosis carried this mutation. Our findings suggest that all patients with coronal synostosis should be examined for this unique mutation.

Prevalence of Pro250Arg mutation of fibroblast growth factor receptor 3 in coronal craniosynostosis

The C749G (Pro250Arg) mutation in the gene for fibroblast growth factor receptor 3 (FGFR3) has been found in patients with various types of craniosynostosis. We aimed to find out the proportion of cases of apparently non-syndromic coronal craniosynostosis attributable to this mutation. We studied 26 patients with coronal craniosynostosis but no syndromic diagnosis, who were referred to a supra-regional specialist centre. Genomic DNA was analysed by PCR and restriction-enzyme digestion to identify the C749G mutation in FGFR3. Family members of patients found to have the mutation were also tested. Eight (31%) of the 26 probands were heterozygous for the C749G mutation. In two cases, the mutation showed autosomal dominant transmission with evidence of variable expressivity; the remaining six cases were sporadic. We demonstrated in six families that the mutation had arisen de novo from clinically unaffected parents. The C749G mutation in FGFR3 is a frequent cause of apparently non-syndromic coronal craniosynostosis. Our finding will aid genetic counselling and prenatal diagnosis. The mutation rate at this nucleotide is one of the highest described in the human genome.

Etiopathogenesis of Craniofacial Anomalies

This article reviews the current information available on the etiopathogenesis of craniofacial anomalies with a particular emphasis on craniosynostosis. The incidence of various types of craniosynostosis is presented, along with an overview of the causes of malformations and deformations. The basic development of cranial sutures and fusion is explored as a background for the exploration of advances in genetic and molecular biology. This information lays the foundation for our understanding of craniofacial deformities and their response to surgical treatment described in the the other articles of this issue.

Expanding cranioplasty for craniosynostosis and allied disorders

For early correction of craniosynostosis in the newborn or in early infancy, strip craniectomy may produce satisfactory results. For late correction, however, more radical cranial reconstruction procedures are essential in order to achieve adequate remodeling of cranial deformities and normalization of intracranial pressure. Craniosynostosis presents various types of cranial deformity, and different procedures for its correction have been reported. Expanding cranioplasty is presented for the increase of cranial volume and immediate correction of the cranial deformity. This cranioplasty can be applied not only for late correction of various types of craniosynostosis but also for other cranial deformities.