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World Neurosurgery May 2022In patients with Pfeiffer syndrome, several corrections are required to correct facial retrusion, maxillary deficiency, or even hypertelorism. The frontofacial monobloc...
BACKGROUND
In patients with Pfeiffer syndrome, several corrections are required to correct facial retrusion, maxillary deficiency, or even hypertelorism. The frontofacial monobloc advancement (FFMA) and the facial bipartition (FB) are the gold standard surgeries. We present the correction of this deformity using a simultaneous computer-assisted FFMA and FB.
METHODS
The 3-dimensional surgical planning defined the virtual correction and bone-cutting guide in view of the FFMA and FB. Coronal and intraoral approaches were combined to perform the osteotomies. Four internal distractors were also placed for the postoperative distraction osteogenesis.
RESULTS
We reported 2 cases of computer-assisted surgery with satisfying outcomes. The sagittal deficiency (fronto-facial retrusion) was corrected by FFMA and the transversal abnormality (i.e., hypertelorism and maxillary deficiency) by the FB, then followed by an internal distraction osteogenesis.
CONCLUSIONS
Computer-assisted surgery is helpful and a reliable option for the management of complex faciocraniosynostosis such as hypertelorism and frontofacial retrusion.
Topics: Acrocephalosyndactylia; Computers; Face; Humans; Hypertelorism; Osteotomy
PubMed: 35176524
DOI: 10.1016/j.wneu.2022.02.031 -
The Journal of Craniofacial Surgery 2020The purpose of this study is to review 10 years of surgical experience in the management of Apert syndrome, focusing on an updated algorithm which includes hand...
BACKGROUND
The purpose of this study is to review 10 years of surgical experience in the management of Apert syndrome, focusing on an updated algorithm which includes hand reconstruction and posterior vault distraction osteogenesis (PVDO). Additionally, the authors compare PVDO, which is currently used, with fronto-orbital advancement (FOA), which was utilized in a previous algorithm.
METHODS
An observational retrospective study was performed on consecutive patients with Apert syndrome who underwent upper and lower limb reconstruction and craniofacial surgery between 2007 and 2017. A modified Clavien-Dindo surgical complication scale was used to stratify complications between PVDO and FOA. Demographic, surgical, and outcome data was also recorded. The blood transfusion rate between PVDO and FOA was also assessed and compared utilizing the Student t test.
RESULTS
The present study included 69 patients with Apert syndrome (34 males and 35 females). Craniofacial surgeries were performed on a total of 38 patients. A total of 210 operations were performed on the respective upper and lower limbs of patients included in this study. A total of 18 patients underwent PVDO (n = 9) and FOA (n = 9). Posterior vault distraction osteogenesis required significantly less transfused blood volume than FOA (P < 0.05). Complication rate and length of hospital stay were similar for each procedure.
CONCLUSION
An updated algorithm to treat Apert patients was implemented. Posterior vault distraction osteogenesis incorporated into an updated algorithm results in a lower blood transfusion rate.
Topics: Acrocephalosyndactylia; Adolescent; Algorithms; Child; Child, Preschool; Female; Humans; Length of Stay; Male; Osteogenesis, Distraction; Plastic Surgery Procedures; Retrospective Studies
PubMed: 31895846
DOI: 10.1097/SCS.0000000000006105 -
Plastic and Reconstructive Surgery Sep 2019Apert syndrome is frequently combined with respiratory insufficiency, because of the midfacial deformity which, in turn, is influenced by the malformation of the skull...
BACKGROUND
Apert syndrome is frequently combined with respiratory insufficiency, because of the midfacial deformity which, in turn, is influenced by the malformation of the skull base. Respiratory impairment resulting from Apert syndrome is caused by multilevel limitations in airway space. Therefore, this study evaluated the segmented nasopharyngeal and laryngopharyngeal anatomy to clarify subcranial anatomy in children with Apert syndrome and its relevance to clinical management.
METHODS
Twenty-seven patients (Apert syndrome, n = 10; control, n = 17) were included. All of the computed tomographic scans were obtained from the patients preoperatively, and no patient had confounding disease comorbidity. Computed tomographic scans were analyzed using Surgicase CMF. Craniometric data relating to the midface, airway, and subcranial structures were collected. Statistical significance was determined using t test analysis.
RESULTS
Although all of the nasal measurements were consistent with those of the controls, the nasion-to-posterior nasal spine, sphenethmoid-to-posterior nasal spine, sella-to-posterior nasal spine, and basion-to-posterior nasal spine distances were decreased 20 (p < 0.001), 23 (p = 0.001), 29 (p < 0.001), and 22 percent (p < 0.001), respectively. The distance between bilateral gonions and condylions was decreased 17 (p = 0.017) and 18 percent (p = 0.004), respectively. The pharyngeal airway volume was reduced by 40 percent (p = 0.01).
CONCLUSION
The airway compromise seen in patients with Apert syndrome is attributable more to the pharyngeal region than to the nasal cavity, with a gradually worsening trend from the anterior to the posterior airway, resulting in a significantly reduced volume in the hypopharynx.
Topics: Acrocephalosyndactylia; Child; Child, Preschool; Female; Humans; Infant; Larynx; Male; Nasopharynx; Retrospective Studies
PubMed: 31461034
DOI: 10.1097/PRS.0000000000005937 -
The Laryngoscope Jan 2022A tracheal cartilaginous sleeve (TCS) is a rare anomaly characterized by anterior fusion of tracheal cartilages. TCS is associated with syndromic craniosynostoses...
OBJECTIVES/HYPOTHESIS
A tracheal cartilaginous sleeve (TCS) is a rare anomaly characterized by anterior fusion of tracheal cartilages. TCS is associated with syndromic craniosynostoses including Apert, Crouzon and Pfeiffer syndromes and FGFR2, FGFR3, and TWIST1 variants. This study presents a 30-year review of patients with syndromic craniosynostosis and TCS and describes diagnostic methods, genetic variants, surgical interventions, and long-term outcomes.
STUDY DESIGN
Retrospective, single-institution review.
METHODS
This review included patients with syndromic craniosynostosis and TCS treated at Seattle Children's Hospital from 1990 to 2020. Tracheostomy, genetic variants, and additional surgery were primary measures. Fisher's exact test compared need for tracheostomy in patients with proposed high-risk (FGFR2 p.W290 or FGFR2 p.C342) versus low-risk genetic variants.
RESULTS
Thirty patients with TCS were identified. Average age at diagnosis was 12 months (range 2-weeks to 7.9-years; standard deviation 19.8 months). Syndromes included Pfeiffer (37%), Apert (37%), and Crouzon (26%). Severe obstructive sleep apnea was present in 76% of patients. Tracheostomy was performed in 17 patients (57%); five were successfully decannulated. Additional interventions included adenotonsillectomy (57%), nasal (20%), laryngeal (17%), and craniofacial skeletal surgery (87%). All patients with Pfeiffer syndrome and FGFR2 p.W290C variants and 83% of patients with FGFR2 p.C342 variants required tracheostomy, differing from other variants (P = .02, odds ratio 33, 95% confidence interval 1.56-697.96). One patient (3%) died.
CONCLUSION
TCS contributes to multilevel airway obstruction in patients with syndromic craniosynostosis. Genetic testing in patients with FGFR2-related syndromic craniosynostoses may identify those at risk of TCS and facilitate early intervention. A better understanding of this patient population may foster individualized airway management strategies and improve outcomes.
LEVEL OF EVIDENCE
4 Laryngoscope, 132:215-221, 2022.
Topics: Acrocephalosyndactylia; Airway Management; Cartilage; Child; Child, Preschool; Craniofacial Dysostosis; Craniosynostoses; Female; Humans; Infant; Infant, Newborn; Laryngectomy; Male; Retrospective Studies; Trachea; Tracheostomy
PubMed: 34133757
DOI: 10.1002/lary.29692 -
Unfallchirurgie (Heidelberg, Germany) Jan 2024A knee dislocation is a serious injury involving at least two of the four major ligamentous stabilizers of the knee. This injury results in multidirectional knee... (Review)
Review
A knee dislocation is a serious injury involving at least two of the four major ligamentous stabilizers of the knee. This injury results in multidirectional knee instability. In dislocation of the knee the popliteal artery and the peroneal nerve can also be damaged. Dislocations with vascular involvement are potentially threatening injuries of the lower extremities. The diagnosis of knee dislocation can be difficult due to a high rate of spontaneous reduction at the initial examination. Knee dislocations are rare and mainly occur in young men. They are mostly caused by high-energy trauma; however, they can also be caused by low-energy injuries. Obesity increases the risk of knee dislocations. The classification of a knee dislocation is based on the anatomical structures involved and the direction of dislocation. The acute treatment includes reduction and stabilization measures. Associated injuries, such as vascular, nerve, extensor mechanism and cartilage injuries as well as fractures and meniscal injuries can influence the treatment approach and the outcome. The definitive surgical treatment depends on the severity of the injury and can include ligament reconstruction or repair with bracing. The aftercare should be individually adapted with the aim to restore knee joint stability and function. Complications such as arthrofibrosis, peroneal nerve palsy, compartment syndrome, postoperative infection and recurrent instability can occur. In the long term, patients have an increased risk for the development of symptomatic osteoarthritis.
Topics: Male; Humans; Knee Dislocation; Joint Dislocations; Knee Joint; Anterior Cruciate Ligament Injuries; Joint Instability
PubMed: 37815539
DOI: 10.1007/s00113-023-01369-y -
Neuro-Chirurgie Nov 2019Patients with syndromic faciocraniosynostosis due to the mutation of the fibroblast growth factor receptor (FGFR) 2 gene present premature fusion of the coronal sutures... (Review)
Review
BACKGROUND
Patients with syndromic faciocraniosynostosis due to the mutation of the fibroblast growth factor receptor (FGFR) 2 gene present premature fusion of the coronal sutures and of the cranial base synchondrosis. Cerebrospinal fluid (CSF) circulation disorders and cerebellar tonsil prolapse are frequent findings in faciocraniosynostosis.
OBJECTIVE
We reviewed the medical literature on the pathophysiological mechanisms of CSF disorders such as hydrocephalus and of cerebellar tonsil prolapse in FGFR2-related faciocraniosynostosis.
DISCUSSION
Different pathophysiological theories have been proposed, but none elucidated all the symptoms present in Apert, Crouzon and Pfeiffer syndromes. The first theory that addressed CSF circulation disruption was the constrictive theory (cephalocranial disproportion): cerebellum and brain stem are constricted by the small volume of the posterior fossa. The second theory proposed venous hyperpressure due to jugular foramens stenosis. The most recent theory proposed a pressure differential between CSF in the posterior fossa and in the vertebral canal, due to foramen magnum stenosis.
Topics: Acrocephalosyndactylia; Arnold-Chiari Malformation; Craniosynostoses; Humans; Hydrocephalus; Receptor, Fibroblast Growth Factor, Type 2
PubMed: 31525395
DOI: 10.1016/j.neuchi.2019.09.001 -
Eye (London, England) May 2022To determine visual outcomes and prevalence of amblyogenic risk factors in children with Apert, Crouzon, Pfeiffer and Saethre-Chotzen syndromes. (Review)
Review
OBJECTIVE
To determine visual outcomes and prevalence of amblyogenic risk factors in children with Apert, Crouzon, Pfeiffer and Saethre-Chotzen syndromes.
METHODS
We conducted a single-centre, retrospective chart review of patients assessed at our unit between October 2000 and May 2017. Our outcome measures were as follows: age at first and last examination, refraction, horizontal ocular alignment, alphabet pattern deviations, anterior segment appearance, fundus examination findings, visual evoked potentials (VEPs) and genetics. The study's primary endpoint was the proportion of children achieving best-corrected visual acuity (BCVA) ≥ 6/12 in the better eye at final visit, as per UK driving standards.
RESULTS
165 patients were included in this study. Breakdown of diagnoses was as follows: Crouzon (n = 60), Apert (n = 57), Pfeiffer (n = 14) and Saethre-Chotzen (n = 34). 98 patients were male. Of 133 patients with full BCVA data available, 76.7% achieved BCVA ≥ 6/12 in the better eye. Of 122 patients, anisometropia >1.00 dioptre sphere (DS) affected 18.9% and astigmatism ≥1.00DS in at least one eye affected 67.2%. Of 246 eyes, 48.4% had oblique astigmatism. Of 165 patients, 60 had exotropia and 12 had esotropia. 48 of 99 patients demonstrated 'V' pattern. On multivariable logistic regression, nystagmus (p = 0.009) and ON involvement (p = 0.001) were associated with decreased vision in the worse eye. Normal VEPs were associated with better BCVA (p = 0.036).
CONCLUSION
There was a high prevalence of amblyogenic factors, however, the majority achieved BCVA ≥ 6/12 in their better eye. Optic neuropathy and nystagmus had the most significant impact on vision. VEPs can help the in overall assessment of visual function.
Topics: Acrocephalosyndactylia; Astigmatism; Child; Craniosynostoses; Evoked Potentials, Visual; Eye Diseases; Female; Humans; Male; Retrospective Studies
PubMed: 33972704
DOI: 10.1038/s41433-021-01458-5 -
Annals of Plastic Surgery Sep 2020Saethre-Chotzen syndrome is a genetic condition characterized by craniofacial and limb anomalies, with craniosynostosis (mainly coronal) being the most frequent... (Review)
Review
INTRODUCTION
Saethre-Chotzen syndrome is a genetic condition characterized by craniofacial and limb anomalies, with craniosynostosis (mainly coronal) being the most frequent craniofacial finding. Cranial and facial deformities can be extremely variable requiring individualization of treatment strategies. We present our case series to highlight clinical findings, treatment philosophy, and challenges facing Saethre-Chotzen patients.
METHODS
A retrospective review was performed on records of patients given a diagnosis of Saethre-Chotzen syndrome at the University of California Los Angeles (UCLA) Craniofacial Clinic (n = 7) between 1980 and 2010. Patients with complete records were included in this study, and review of demographic data, clinical findings, surgical interventions and postoperative follow-up, and stability were performed.
RESULTS
Seven patients (1 male and 6 female) were included in this study. The average age at which the patients were first seen was 6.5 years. Suture involvement was bicoronal (n = 6) and unicoronal (n = 1). There was 1 patient having superimposed metopic synostosis, and there was another patient having Kleeblattschädel deformity. Previous procedures performed for patients before establishing care at UCLA were strip craniectomy (n = 2) and fronto-orbital advancement (n = 2). All patients (n = 7) had fronto-orbital advancements at UCLA. Other skeletal operations included the following: redo forehead advancement and contouring (n = 3), monobloc advancement (n = 1), and LeFort III distraction (n = 1). Five patients reached skeletal maturity, and 2 patients received LeFort I advancement for class III malocclusion, one of which also required a bilateral sagittal split osteotomy of the mandible.
CONCLUSION
Clinical presentation and severity of deformity in Saethre-Chotzen syndrome are variable. Our current report reviews our treatment strategies and illustrates the predominance of cranial and upper face deformities and frequent need for redo surgeries to address forehead asymmetry in this group of syndromic craniosynostosis patients.
Topics: Acrocephalosyndactylia; Craniosynostoses; Female; Forehead; Humans; Male; Retrospective Studies; Syndrome
PubMed: 32487807
DOI: 10.1097/SAP.0000000000002391 -
Advances and Technical Standards in... 2023Apert syndrome is characterized by a wide spectrum of craniofacial clinical features that have been successfully addressed via a variety of midface advancement... (Review)
Review
Apert syndrome is characterized by a wide spectrum of craniofacial clinical features that have been successfully addressed via a variety of midface advancement techniques. Although surgeons have individual preferences as to which specific procedures should be performed to best treat Apert patients, craniofacial plastic surgeons, working in tandem with pediatric neurosurgeons, can identify and evaluate functional limitations and facial morphologic disproportions, and establish appropriate criteria for effective midface advancement technique indication and selection. The purpose of this review article is to present and discuss our rationale for midface advancement technique selection based upon the most common craniofacial characteristics presented by Apert syndrome patients. The present article also provides a grading system that stratifies as major, moderate, and mild, the effect of each midface advancement technique on the different types of Apert syndrome facial features. Surgeons should take into consideration the maximum effect and benefit of each craniofacial osteotomy and how these procedures will alter the craniofacial skeleton. By understanding the long-term effect of each osteotomy on the most common craniofacial characteristics of Apert syndrome patients, craniofacial plastic surgeons and neurosurgeons will be able to customize the surgical procedures they perform in order to achieve the best possible outcomes.
Topics: Humans; Child; Acrocephalosyndactylia; Retrospective Studies; Osteotomy, Le Fort; Face
PubMed: 37318579
DOI: 10.1007/978-3-031-28202-7_13 -
The Journal of Craniofacial SurgeryClassic features of Saethre-Chotzen syndrome (SCS) described in the literature include a prominent nasal bridge, eyelid ptosis, telorbitism, maxillary hypoplasia, and...
PURPOSE
Classic features of Saethre-Chotzen syndrome (SCS) described in the literature include a prominent nasal bridge, eyelid ptosis, telorbitism, maxillary hypoplasia, and mandibular prognathism. The purpose of this study was to evaluate objectively the bony features of SCS.
METHODS
Preoperative computer tomography scans of 15 SCS patients, 23 normal controls, 13 bicoronal nonsyndromic, and 7 unicoronal nonsyndromic craniosynostosis patients were included for analysis. Unaffected controls and nonsyndromic patients were age- and sex-matched to SCS patients. Morphometric cephalometrics were analyzed using three-dimensional computer tomography reconstructions. Mann-Whitney U were used to compare facial measurements between SCS and normal and nonsyndromic craniosynostosis controls.
RESULTS
Telorbitism was present in bicoronal SCS patients only (P = 0.04) but absent in the unicoronal and bicoronal/metopic cohorts. The angle of the nasal bone relative to the sella was not different between SCS and controls (P = 0.536), although the angle of the nasal bone relative to the forehead was decreased in SCS by 15.5° (P < 0.001). Saethre-Chotzen syndrome had a 2.6° maxillary retrusion relative to controls (P = 0.03). In addition, SCS patients aged 4 to 7 months had a wider (39.34 versus 35.04, P = 0.017) and anteroposteriorly foreshortened (32.12 versus 35.06, P = 0.039) maxilla. There was no difference in mandibular prognathism among SCS patients as measured by the sella-nasion-B point angle compared to controls (P = 0.705).
CONCLUSIONS
Despite classic descriptions, on morphometric analysis SCS patients did not demonstrate consistency across all suture subtypes in terms of telorbitism, a broad nasal bridge, or mandibular prognathism. Rather, SCS subtypes of SCS based on suture pathology more closely resemble nonsyndromic patients.
Topics: Acrocephalosyndactylia; Cephalometry; Craniosynostoses; Forehead; Humans; Plastic Surgery Procedures
PubMed: 34727468
DOI: 10.1097/SCS.0000000000007910