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JBJS Reviews Feb 2022Klippel-Feil syndrome (KFS) is a rare multisystem constellation of findings with congenital cervical fusion as the hallmark. The etiology is not fully understood.
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Klippel-Feil syndrome (KFS) is a rare multisystem constellation of findings with congenital cervical fusion as the hallmark. The etiology is not fully understood.
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Recent studies have indicated that KFS is more prevalent than previously described.
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Hypermobility in the nonfused segments may lead to adjacent segment disease and potential disc herniation and myelopathy after minor trauma.
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Most patients with KFS are asymptomatic and can be managed nonoperatively. Surgical treatment is reserved for patients presenting with pain refractory to medical management, instability, myelopathy or radiculopathy, or severe adjacent segment disease.
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Patients with craniocervical abnormalities and upper cervical instability should avoid contact sports as they are at increased risk for spinal cord injury after minor trauma.
Topics: Cervical Vertebrae; Humans; Klippel-Feil Syndrome; Radiography; Spinal Cord Diseases; Spinal Diseases
PubMed: 35171878
DOI: 10.2106/JBJS.RVW.21.00166 -
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 -
The Cleft Palate-craniofacial Journal :... Nov 2022Facial dysostosis is a group of rare craniofacial congenital disabilities requiring multidisciplinary long-term care. This report presents the phenotypic and genotypic...
OBJECTIVE
Facial dysostosis is a group of rare craniofacial congenital disabilities requiring multidisciplinary long-term care. This report presents the phenotypic and genotypic information from South India.
DESIGN
The study is a case series.
SETTING
This was an international collaborative study involving a tertiary craniofacial clinic and medical genetics unit.
PATIENTS, PARTICIPANTS
The participants were 9 families with 17 affected individuals of facial dysostosis.
INTERVENTION
Exome analysis focused on known genes associated with acrofacial and mandibulofacial syndromes.
MAIN OUTCOME MEASURE
The outcome measure was to report phenotyptic and genetic heterogeneity in affected individuals.
RESULTS
A Tessier cleft was seen in 7 (41%), lower eyelid coloboma in 12 (65%), ear anomalies in 10 (59%), uniolateral or bilateral aural atresia in 4 (24%), and deafness in 6 (35%). The facial gestalt of Treacher Collins syndrome (TCS) showed extensive phenotypic variations. Pathogenic variants in (Treacher Collins syndrome) were seen in six families, (acrofacial dysostosis, Cincinnati type) and (mandibulofacial dysostosis with microcephaly) in one each. One family (11.1%) had no detectable variation. Five out of six probands with Treacher Collins syndrome had other affected family members (83.3%), including a non-penetrant mother, identified after sequencing.
CONCLUSION
Our report illustrates the molecular heterogeneity of mandibulofacial dysostosis in India.
Topics: Face; Genotype; Humans; Mandibulofacial Dysostosis; Microcephaly; Peptide Elongation Factors; Ribonucleoprotein, U5 Small Nuclear; Syndrome
PubMed: 34714179
DOI: 10.1177/10556656211050006 -
Annals of Plastic Surgery May 2022Sagittal craniosynostosis typically presents as dolichocephaly or less frequently as clinocephaly, a "saddle-shaped" phenotype. This project aimed to characterize...
BACKGROUND
Sagittal craniosynostosis typically presents as dolichocephaly or less frequently as clinocephaly, a "saddle-shaped" phenotype. This project aimed to characterize clinically relevant differences between sagittal synostosis phenotypes and examine the etiology of the delay in presentation.
METHODS
An institutional review board-approved retrospective review was performed from January 1999 to November 2018 at a single institution. Analyses examined correlations between subphenotype, time of presentation, minor suture fusion, developmental delay, and operative technique.
RESULTS
One hundred sixty patients diagnosed with single-suture sagittal craniosynostosis were identified. A total of 30.6% had a saddle phenotype (n = 49) and 69.4% had dolichocephaly (n = 111). Patients with the saddle phenotype were more likely to present with a developmental delay and to have at least 1 minor suture fused than patients with dolichocephaly were. Patients with the saddle phenotype presented for surgery at an older age and were more likely to undergo open cranial vault repair, with increased blood loss, higher transfusion volume, and longer time.
CONCLUSIONS
This study highlights clinical differences in sagittal craniosynostosis phenotypes and shows that developmental delay is an initial presentation of the saddle phenotype. The saddle phenotype also correlated with fusion of the minor squamous and sphenoid sutures. The link between developmental delay and minor suture fusion was notable and should be explored with a larger sample size. Patients with saddle synostosis present for surgery at an older age than patients with dolichocephaly and therefore are more likely to receive open cranial vault repair, with a taxing intraoperative experience characterized by increased blood loss, increased transfusions, and longer operation time.
Topics: Humans; Skull; Neurosurgical Procedures; Operative Time; Sutures; Craniosynostoses
PubMed: 37740467
DOI: 10.1097/SAP.0000000000003137 -
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 SurgeryA subset of patients with metopic craniosynostosis are noted to have elevated intracranial pressure (ICP). However, it is not known if the propensity for elevated ICP is...
PURPOSE
A subset of patients with metopic craniosynostosis are noted to have elevated intracranial pressure (ICP). However, it is not known if the propensity for elevated ICP is influenced by the severity of metopic cranial dysmorphology.
METHODS
Children with nonsyndromic single-suture metopic synostosis were prospectively enrolled and underwent optical coherence tomography to measure optic nerve head morphology. Preoperative head computed tomography scans were assessed for endocranial bifrontal angle as well as scaled metopic synostosis severity score (MSS) and cranial morphology deviation score determined by CranioRate, an automated severity classifier.
RESULTS
Forty-seven subjects were enrolled between 2014 and 2019, at an average age of 8.5 months at preoperative computed tomography and 11.8 months at index procedure. Fourteen patients (29.7%) had elevated optical coherence tomography parameters suggestive of elevated ICP at the time of surgery. Ten patients (21.3%) had been diagnosed with developmental delay, eight of whom demonstrated elevated ICP. There were no significant associations between measures of metopic severity and ICP. Metopic synostosis severity score and endocranial bifrontal angle were inversely correlated, as expected ( r =-0.545, P <0.001). A negative correlation was noted between MSS and formally diagnosed developmental delay ( r =-0.387, P =0.008). Likewise, negative correlations between age at procedure and both MSS and cranial morphology deviation was observed ( r =-0.573, P <0.001 and r =-0.312, P =0.025, respectively).
CONCLUSIONS
Increased metopic severity was not associated with elevated ICP at the time of surgery. Patients who underwent later surgical correction showed milder phenotypic dysmorphology with an increased incidence of developmental delay.
Topics: Child; Humans; Infant; Intracranial Pressure; Craniosynostoses; Skull; Tomography, X-Ray Computed; Intracranial Hypertension
PubMed: 35864584
DOI: 10.1097/SCS.0000000000008748 -
Oral and Maxillofacial Surgery Clinics... Aug 2022Syndromic craniosynostosis (CS) represents a relatively uncommon disease process that poses significant reconstructive challenges for the craniofacial surgeon. Although... (Review)
Review
Syndromic craniosynostosis (CS) represents a relatively uncommon disease process that poses significant reconstructive challenges for the craniofacial surgeon. Although there is considerable overlap in clinical features associated with various forms of syndromic CS, key extracranial features and close examination of the extremities help to distinguish the subtypes. While Virchow's law can easily guide the diagnosis of single suture, nonsyndromic CS, syndromic CS traditionally results in atypical presentations inherent to multiple suture fusion. Coronal ring involvement in isolation or associated with additional suture fusion is the most common pattern in syndromic CS often resulting in turribrachycephaly.
Topics: Craniosynostoses; Humans; Image Processing, Computer-Assisted; Plastic Surgery Procedures; Skull
PubMed: 35787825
DOI: 10.1016/j.coms.2022.01.006 -
Journal of Pediatric Ophthalmology and... Jan 2021
Topics: Humans; Hypertelorism
PubMed: 33495790
DOI: 10.3928/01913913-20201221-02 -
The Journal of Craniofacial SurgeryThe authors provide the case of a 6-year-old male who presented late with multi-suture craniosynostosis and chronically elevated intracranial pressures (ICPs). He was...
The authors provide the case of a 6-year-old male who presented late with multi-suture craniosynostosis and chronically elevated intracranial pressures (ICPs). He was surgically managed with frontal orbital advancement. This particular case illustrates the significant bleeding and unique bony pathology that can occur in patients with high ICP with concomitant venous collateralization. At 1-month follow-up, he demonstrated significant improvement with maintained expansion and no signs of elevated ICP despite delayed intervention. Frontal orbital advancement serves as an effective method for cranial vault expansion and correction of frontal deformities caused by craniosynostosis.
Topics: Child; Craniosynostoses; Humans; Infant; Intracranial Pressure; Male; Neurosurgical Procedures; Skull; Sutures
PubMed: 34292251
DOI: 10.1097/SCS.0000000000007888 -
The Journal of Craniofacial Surgery 2020The use of computer-aided design and computer-aided manufacturing in oral and maxillofacial surgery is an ever-growing field.The availability of 3D models, cutting...
The use of computer-aided design and computer-aided manufacturing in oral and maxillofacial surgery is an ever-growing field.The availability of 3D models, cutting guides, and customised surgical instruments gives surgeons the opportunity to modify and improve their surgical procedures.Here, we discuss the use of computer-aided design-computer-aided manufacturing to improve the management of a case of nonsyndromic metopic synostosis through the construction of: A cutting guide for the cranium, custom-made orbital protectors, a 3D model of the predicted postoperative meninges to allow off the table bone recontouring, and a template frontal bar to allow more specific recontouring of the frontal bar.
Topics: Craniosynostoses; Humans; Imaging, Three-Dimensional; Plastic Surgery Procedures
PubMed: 31794452
DOI: 10.1097/SCS.0000000000005927