-
Frontofacial Monobloc Advancement With Internal Distraction: Surgical Technique and Osteotomy Guide.Operative Neurosurgery (Hagerstown, Md.) Jul 2022Craniosynostosis are cranial deformities resulting from the early closure of 1 or more sutures. Concomitant facial changes are complex and usually result from the...
BACKGROUND
Craniosynostosis are cranial deformities resulting from the early closure of 1 or more sutures. Concomitant facial changes are complex and usually result from the involvement of multiple sutures, which may lead to restriction of cranial growth and brain expansion, ocular compression, and breathing difficulties. Surgical techniques to correct syndromic craniosynostosis have improved over time, considerably reducing the rate of complications of this procedure.
OBJECTIVE
To describe in detail (step-by-step) and with pertinent anatomic considerations the technique of monobloc frontofacial advancement using internal distractors.
METHODS
We describe the monobloc frontofacial advancement technique with the use of internal distractors, which we use in patients with primary syndromic craniosynostosis (Apert, Crouzon, and Pfeiffer) who have major facial hypoplasia and secondary respiratory repercussions. To illustrate this technique, the procedure was performed in 2 cranial models: an adult artificial acrylic skull of normal morphology for better evidence of anatomic repairs and a 3-dimensional printed infant skull from a tomography file obtained from a child diagnosed with Apert syndrome.
RESULTS
The benefits of osteogenic distraction and better surgical timing for each procedure are presented. We presented the changes and details of osteotomies performed during the procedure, as well as anatomic details and care regarding the pterygomaxillary dysjunction.
CONCLUSION
Monobloc frontofacial distraction is a procedure with widely demonstrated aesthetic and functional results, and this detailed step-by-step description may improve familiarity with the anatomic landmarks of the procedure and provide a better dynamic understanding of the distraction process.
Topics: Acrocephalosyndactylia; Adult; Child; Craniofacial Dysostosis; Craniosynostoses; Facial Bones; Humans; Infant; Osteotomy
PubMed: 35383710
DOI: 10.1227/ons.0000000000000167 -
Scientific Reports Apr 2022This meta-analysis aims to compare Apert syndrome (AS) patients with non-AS populations (not clinically or genetically diagnosed) on craniofacial cephalometric... (Meta-Analysis)
Meta-Analysis
This meta-analysis aims to compare Apert syndrome (AS) patients with non-AS populations (not clinically or genetically diagnosed) on craniofacial cephalometric characteristics (CCC) to combine publicly available scientific information while also improving the validity of primary study findings. A comprehensive search was performed in the following databases: PubMed, Google Scholar, Scopus, Medline, and Web of Science, an article published between 1st January 2000 to October 17th, 2021. PRISMA (Preferred Reporting Items for Systematic Reviews and Meta-Analyses) guidelines were followed to carry out this systematic review. We used the PECO system to classify people with AS based on whether or not they had distinctive CCC compared to the non-AS population. Following are some examples of how PECO has been used: People with AS are labeled P; clinical or genetic diagnosis of AS is labeled E; individuals without AS are labeled C; CCC of AS are labeled O. Using the Newcastle-Ottawa Quality-Assessment-Scale, independent reviewers assessed the articles' methodological quality and extracted data. 13 studies were included in the systematic review. 8 out of 13 studies were score 7-8 in NOS scale, which indicated that most of the studies were medium to high qualities. Six case-control studies were analyzed for meta-analysis. Due to the wide range of variability in CCC, we were only able to include data from at least three previous studies. There was a statistically significant difference in N-S-PP (I: 76.56%; P = 0.014; CI 1.27 to - 0.28) and Greater wing angle (I: 79.07%; P = 0.008; CI 3.07-1.17) between AS and control subjects. Cleft palate, anterior open bite, crowding in the upper jaw, and hypodontia occurred more frequently among AS patients. Significant shortening of the mandibular width, height and length is the most reported feature in AS patients. CT scans can help patients with AS decide whether to pursue orthodontic treatment alone or to have their mouth surgically expanded. The role of well-informed orthodontic and maxillofacial practitioners is critical in preventing and rehabilitating oral health issues.
Topics: Acrocephalosyndactylia; Cephalometry; Cleft Palate; Humans; Research Report
PubMed: 35383244
DOI: 10.1038/s41598-022-09764-y -
Journal of Neurosurgery. Pediatrics Jun 2022Bilateral coronal craniosynostosis in Apert syndrome is traditionally managed with open cranial vault remodeling procedures like fronto-orbital advancement (FOA)....
OBJECTIVE
Bilateral coronal craniosynostosis in Apert syndrome is traditionally managed with open cranial vault remodeling procedures like fronto-orbital advancement (FOA). However, as minimally invasive procedures gain popularity, limited data exist to determine their efficacy in this syndromic population. This study examines whether endoscopic strip craniectomy (ESC) is inferior to FOA in correcting head growth in patients with Apert syndrome.
METHODS
The authors conducted a retrospective review of children with Apert syndrome over a 23-year period. Postoperative head circumferences until 24 months of age were compared for patients treated with ESC versus FOA by using normative growth curves. Intraoperative and postoperative morbidity was compared between groups.
RESULTS
The median postoperative follow-up for the FOA (n = 14) and ESC (n = 16) groups was 40 and 28.5 months, the median age at operation was 12.8 and 2.7 months, and the median operative time was 285 and 65 minutes, respectively (p < 0.001). The FOA group had significantly higher rates of blood transfusion, ICU admission, and longer hospital length of stay (p < 0.01). There were no statistically significant differences in premature reossification rates, complications, need for further procedures, or complaints of asymmetry. Compared to normative growth curves, all patients in both groups had head circumferences comparable to or above the 85th percentile at last follow-up.
CONCLUSIONS
Children with Apert syndrome and bilateral coronal craniosynostosis treated with ESC experience early normalization of head growth and cephalic index that is not inferior to those treated with FOA. Longer-term assessments are needed to determine long-term aesthetic results and the correlation between head growth and neurocognitive development in this population.
Topics: Humans; Child; Infant; Acrocephalosyndactylia; Treatment Outcome; Craniosynostoses; Craniotomy; Skull; Retrospective Studies
PubMed: 35364592
DOI: 10.3171/2022.2.PEDS21340 -
The Cleft Palate-craniofacial Journal :... Aug 2023Saethre-Chotzen syndrome (SCS) is a known craniosynostosis syndrome with a variable presentation of craniofacial and somatic involvement. Congenital coronal... (Review)
Review
Saethre-Chotzen syndrome (SCS) is a known craniosynostosis syndrome with a variable presentation of craniofacial and somatic involvement. Congenital coronal craniosynostosis is most commonly observed in SCS; however, progressive postnatal craniosynostosis of other sutures has been reported. The authors present 2 infants with progressive postnatal craniosynostosis and SCS caused by chromosome 7p deletions including the gene. The evolution of their clinical features and a literature review of patients with syndromic, postnatal progressive craniosynostosis illustrate the importance of longitudinal observation and management of these patients.
Topics: Infant; Humans; Gene Deletion; Twist-Related Protein 1; Acrocephalosyndactylia; Craniosynostoses; Chromosome Deletion; Nuclear Proteins
PubMed: 35354337
DOI: 10.1177/10556656221090844 -
Journal of Pediatric Ophthalmology and... 2022The authors present a case of absent multiple extraocular muscle insertions in Pfeiffer syndrome. An 8-year-old girl with Pfeiffer syndrome presented with V-pattern...
The authors present a case of absent multiple extraocular muscle insertions in Pfeiffer syndrome. An 8-year-old girl with Pfeiffer syndrome presented with V-pattern exotropia and left hypertropia. The absence of bilateral superior oblique, bilateral superior rectus, and left inferior rectus muscle insertions was found intraoperatively. .
Topics: Acrocephalosyndactylia; Child; Exotropia; Female; Humans; Oculomotor Muscles; Ophthalmologic Surgical Procedures; Strabismus
PubMed: 35343824
DOI: 10.3928/01913913-20211206-01 -
Journal of Cranio-maxillo-facial... Apr 2022The aim of this case report is to describe the surgical technique and outcome using internal intraoral distraction devices in LeFort II distraction with zygomatic...
The aim of this case report is to describe the surgical technique and outcome using internal intraoral distraction devices in LeFort II distraction with zygomatic repositioning (LF2ZR). In Apert syndrome the midface is characterized by a complex hypoplasia, with the central part being more affected than the lateral orbito-zygomatic complex. In LF2ZR, the zygomas are repositioned and internally fixated, and the central midface is further advanced through a LeFort II distraction. In previous publications, the distraction has been performed using external halo-based devices. It seems that the LF2ZR procedure can be planned and performed with adequate accuracy using virtual surgical planning tools. Knowledge about the possibility of using internal intraoral distraction devices in LF2ZR is important, as the inconspicuous placement of intraoral devices can be advantageous for some patients.
Topics: Acrocephalosyndactylia; Craniofacial Dysostosis; Humans; Osteogenesis, Distraction; Osteotomy, Le Fort; Zygoma
PubMed: 35339343
DOI: 10.1016/j.jcms.2022.02.010 -
Plastic and Reconstructive Surgery May 2022The purpose of this study was to detail perioperative ophthalmologic evaluations to characterize functional ocular outcomes after facial bipartition surgery.
BACKGROUND
The purpose of this study was to detail perioperative ophthalmologic evaluations to characterize functional ocular outcomes after facial bipartition surgery.
METHODS
Patients with hypertelorbitism who underwent facial bipartition surgery were studied specifically for eye motility disorders by separating patients into rare craniofacial clefts (midline and paramedian) (n = 34) and craniofacial dysostosis (Apert, Crouzon, and Pfeiffer) (n = 74). Preoperative and postoperative (12 months) ophthalmologic examinations (with depth perception tests), computed tomography scans, and magnetic resonance imaging scans were analyzed.
RESULTS
Among craniofacial cleft patients, mean interdacryon distance was reduced from 39 ± 4 mm to 17 ± 2 mm, with strabismus improved from 88 percent (exotropia 82 percent) preoperatively to only 29 percent postoperatively. Depth perception improved to a lesser degree, with abnormal tests at a rate of 79 percent preoperatively to 56 percent postoperatively. Wider hypertelorbitism had a higher degree of strabismus. Among craniofacial dysostotic patients, mean interdacryon distance was reduced from 37 ± 3 mm to 17 ± 2 mm, and strabismus improved from 55 percent to only 14 percent. Depth perception improved to a lesser degree, with 68 percent abnormal tests preoperatively and 46 percent postoperatively. Apert patients had more V-pattern strabismus and exotropia (79 percent) than did other craniofacial dysostosis patients (42 percent).
CONCLUSIONS
The authors' data indicate that facial bipartition for hypertelorbitism-known to improve periorbital aesthetics-also improves eye motility disturbances. Thus, vision problems related to exotropia should be considered a functional indication for facial bipartition surgery in patients with hypertelorbitism.
CLINICAL QUESTION/LEVEL OF EVIDENCE
Therapeutic, IV.
Topics: Acrocephalosyndactylia; Craniofacial Dysostosis; Exotropia; Face; Humans; Tomography, X-Ray Computed
PubMed: 35286295
DOI: 10.1097/PRS.0000000000009041 -
Plastic and Reconstructive Surgery May 2022Oculoorbital disproportion in patients with craniosynostosis has similarities and dissimilarities between syndromic and nonsyndromic cases. The authors hypothesized that...
BACKGROUND
Oculoorbital disproportion in patients with craniosynostosis has similarities and dissimilarities between syndromic and nonsyndromic cases. The authors hypothesized that these two conditions have specific individual influences as they relate to development of the orbital and periorbital skeletons.
METHODS
A total of 133 preoperative computed tomography scans (nonsyndromic bicoronal synostosis, n = 38; Apert syndrome bicoronal synostosis subtype, n = 33; Crouzon syndrome bicoronal synostosis subtype, n = 10; controls, n = 52) were included. Craniometric and volumetric analyses related to the orbit and periorbital anatomy were performed.
RESULTS
Orbital cavity volume was mildly restricted in nonsyndromic bicoronal synostosis (7 percent, p = 0.147), but more so in Apert and Crouzon syndromes [17 percent (p = 0.002) and 21 percent (p = 0.005), respectively]. The sphenoid side angle in Apert syndrome was wider than when compared to Crouzon syndrome (p = 0.043). The ethmoid side angle in Apert patients, however, was narrower (p = 0.066) than that in Crouzon patients. Maxilla anteroposterior length was more restricted in Apert syndrome than Crouzon syndrome (21 percent, p = 0.003) and nonsyndromic cases (26 percent, p < 0.001). The posterior nasal spine position was retruded in Crouzon syndrome (39 percent, p < 0.001), yet the anterior nasal spine position was similar in Apert and Crouzon syndromes.
CONCLUSIONS
Orbit and periorbital malformation in syndromic craniosynostosis is likely the combined influence of syndromic influences and premature suture fusion. Apert syndrome expanded the anteriorly contoured lateral orbital wall associated with bicoronal synostosis, whereas Crouzon syndrome had more infraorbital rim retrusion, resulting in more severe exorbitism. Apert syndrome developed maxillary hypoplasia, in addition to the maxillary retrusion, observed in Crouzon syndrome and nonsyndromic bicoronal synostosis patients.
CLINICAL QUESTION/LEVEL OF EVIDENCE
Risk, II.
Topics: Acrocephalosyndactylia; Craniofacial Dysostosis; Craniosynostoses; Humans; Infant; Micrognathism; Orbit; Syndrome
PubMed: 35286288
DOI: 10.1097/PRS.0000000000009051 -
The Journal of Craniofacial SurgeryApert syndrome is a multisystem genetic disorder typically characterized by craniosynostosis and syndactyly. Studies also report an increased incidence of hearing loss...
INTRODUCTION
Apert syndrome is a multisystem genetic disorder typically characterized by craniosynostosis and syndactyly. Studies also report an increased incidence of hearing loss in children with Apert syndrome in comparison to the general population. The aim of this study was to gain an understanding of the inner ear radiological anatomical variations seen in children with Apert syndrome and correlate these with audiological outcomes.
MATERIALS AND METHODS
This was a retrospective review of computed tomography imaging of patients with Apert syndrome. Radiological images were examined for anatomical variations in inner ear structures. These were correlated with audiological testing.
RESULTS
Nineteen patients were included in the study. The most commonly observed anomaly was an absent bony window of the lateral semi-circular canal (SCC) in 11 patients (58%), followed by an enlarged lateral SCC in 12 patients (63%). This combination of anomalies was seen collectively in 42% of patients and together these give the appearance of a 'rectangular vestibular cavity'. Audiological results were available in 11 patients and 9 of these patients had a conductive hearing loss.
CONCLUSION
To the authors' knowledge, this is the first study that reports radiological findings alongside audiological testing in Apert syndrome and describes the appearance of a 'rectangular vestibular cavity'.
Topics: Acrocephalosyndactylia; Child; Craniosynostoses; Ear, Inner; Hearing Loss; Hearing Loss, Conductive; Hearing Loss, Sensorineural; Humans; Retrospective Studies
PubMed: 35275865
DOI: 10.1097/SCS.0000000000008636 -
BMJ Case Reports Mar 2022The management of patients with Apert syndrome (AS) is complex and reflects the multisystem disease as a result of premature fusion of cranial vault, cranial base and...
The management of patients with Apert syndrome (AS) is complex and reflects the multisystem disease as a result of premature fusion of cranial vault, cranial base and midface sutures as well as extremity anomalies characterised by syndactyly. Early cranial sutural fusion results in craniocerebral disproportion which can lead to crisis surgical intervention due to raised intracranial pressure, ophthalmic and compromised airway concerns. Childhood inventions are often determined by psychosocial concerns and adult surgical interventions are often determined by cosmetic concerns. Treatments are provided by many different specialists within multidisciplinary teams (MDT). The treatment pathway extends from birth well into adulthood and is often associated with a heavy burden of care. Due to the extensive nature of the interaction with these patients MDT members have opportunities to provide enhanced patient-centred care and support.This case report provides an overview of the current knowledge of the aetiology of AS, illustrates the pathway of surgical and non-surgical management of AS and provides a long-term review of the dentofacial treatment outcomes.By having a better understanding of the impact of AS and treatment provided, MDT members can not only provide improved clinical treatment but also offer improved patient experiences for those with craniofacial anomalies, in particular, an increased awareness of the psychosocial challenges they endure.
Topics: Acrocephalosyndactylia; Adult; Child; Cranial Sutures; Craniofacial Abnormalities; Face; Humans; Skull Base
PubMed: 35236672
DOI: 10.1136/bcr-2021-245224