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Chinese Medical Journal Feb 2020The treatments for early-onset scoliosis (EOS) remain great challenges for spine surgeons. This study aimed to comprehensively review the treatments for EOS, especially... (Review)
Review
The treatments for early-onset scoliosis (EOS) remain great challenges for spine surgeons. This study aimed to comprehensively review the treatments for EOS, especially the advancements made in the last decade. Current studies on EOS were retrieved through a search on PubMed, UpToDate, the Web of Science Core Collection and Scopus were reviewed. The most pertinent information related to the current treatments for EOS was collected. The foci of treatments for EOS have included creating a well-developed thoracic cavity, improving lung volume, and improving pulmonary function. Conservative treatments include bracing, casting, halo-gravity traction, and physiotherapy. Serial casting is the most effective conservative treatment for EOS. Surgical treatments mainly include growth-friendly techniques, which are generally classified into three types according to the amount of correction force applied: distraction-based, compression-based, and growth-guided. The distraction-based systems include traditional or conventional growing rods, magnetically controlled growing rods, and vertical expandable prosthesis titanium ribs. The compression-based systems include vertebral body stapling and tethering. The growth-guided systems include the Shilla system and modern Luque trolley. In addition, some newer techniques have emerged in recent years, such as posterior dynamic deformity correction (ApiFix). For EOS patients presenting with sharp deformities in a long, congenital spinal deformity, a hybrid technique, one-stage posterior osteotomy with short segmental fusion and dual growing rods, may be a good choice. Hemivertebra resection is the gold standard for congenital scoliosis caused by single hemivertebra. Although the patient's growth potential is preserved in growth-friendly surgeries, a high complication rate should be expected, as well as a prolonged treatment duration and additional costs. Knowledge about EOS and its treatment options is rapidly expanding. Conservative treatments have specific limitations. For curves requiring a surgical intervention, surgical techniques may vary depending on the patients' characteristics, the surgeon's experience, and the actual state of the country.
Topics: Humans; Orthopedic Procedures; Osteotomy; Postoperative Complications; Scoliosis; Spine
PubMed: 31904727
DOI: 10.1097/CM9.0000000000000614 -
The New England Journal of Medicine Jan 2015Congenital scoliosis is a common type of vertebral malformation. Genetic susceptibility has been implicated in congenital scoliosis.
BACKGROUND
Congenital scoliosis is a common type of vertebral malformation. Genetic susceptibility has been implicated in congenital scoliosis.
METHODS
We evaluated 161 Han Chinese persons with sporadic congenital scoliosis, 166 Han Chinese controls, and 2 pedigrees, family members of which had a 16p11.2 deletion, using comparative genomic hybridization, quantitative polymerase-chain-reaction analysis, and DNA sequencing. We carried out tests of replication using an additional series of 76 Han Chinese persons with congenital scoliosis and a multicenter series of 42 persons with 16p11.2 deletions.
RESULTS
We identified a total of 17 heterozygous TBX6 null mutations in the 161 persons with sporadic congenital scoliosis (11%); we did not observe any null mutations in TBX6 in 166 controls (P<3.8×10(-6)). These null alleles include copy-number variants (12 instances of a 16p11.2 deletion affecting TBX6) and single-nucleotide variants (1 nonsense and 4 frame-shift mutations). However, the discordant intrafamilial phenotypes of 16p11.2 deletion carriers suggest that heterozygous TBX6 null mutation is insufficient to cause congenital scoliosis. We went on to identify a common TBX6 haplotype as the second risk allele in all 17 carriers of TBX6 null mutations (P<1.1×10(-6)). Replication studies involving additional persons with congenital scoliosis who carried a deletion affecting TBX6 confirmed this compound inheritance model. In vitro functional assays suggested that the risk haplotype is a hypomorphic allele. Hemivertebrae are characteristic of TBX6-associated congenital scoliosis.
CONCLUSIONS
Compound inheritance of a rare null mutation and a hypomorphic allele of TBX6 accounted for up to 11% of congenital scoliosis cases in the series that we analyzed. (Funded by the National Basic Research Program of China and others.).
Topics: Adolescent; Asian People; Child; Child, Preschool; Chromosomes, Human, Pair 16; DNA Copy Number Variations; Female; Genetic Predisposition to Disease; Genotype; Humans; Male; Mutation; Pedigree; Phenotype; Radiography; Scoliosis; Sequence Deletion; Spine; T-Box Domain Proteins
PubMed: 25564734
DOI: 10.1056/NEJMoa1406829 -
The British Journal of Radiology Jan 2022Alagille syndrome (ALGS) is a multisystemic disease caused by mutations in genes of pathway, which regulates embryonic cell differentiation and angiogenesis.... (Review)
Review
Alagille syndrome (ALGS) is a multisystemic disease caused by mutations in genes of pathway, which regulates embryonic cell differentiation and angiogenesis. Clinically, ALGS is characterized by cholestasis, cardiac defects, characteristic facial features, skeletal and ophthalmologic abnormalities. The aim of this review is to illustrate neuroradiological findings in ALGS, which are less well-known and prevalent, including cerebrovascular anomalies (such as aneurysms, dolichoectasia, Moyamoya syndrome and venous peculiarities), Chiari 1 malformation, craniosynostosis, intracranial hypertension, and vertebral anomalies (namely butterfly vertebra, hemivertebra, and craniocervical junction anomalies). Rarer cerebral midline malformations and temporal bone anomalies have also been described.
Topics: Alagille Syndrome; Brain; Cerebral Angiography; Cerebral Arteries; Cerebral Veins; Face; Humans; Magnetic Resonance Imaging; Neuroradiography; Skull; Spine
PubMed: 34609904
DOI: 10.1259/bjr.20201241 -
Journal of Medical Genetics May 2002In 1969, Robinow and colleagues described a syndrome of mesomelic shortening, hemivertebrae, genital hypoplasia, and "fetal facies". Over 100 cases have now been... (Review)
Review
In 1969, Robinow and colleagues described a syndrome of mesomelic shortening, hemivertebrae, genital hypoplasia, and "fetal facies". Over 100 cases have now been reported and we have reviewed the current knowledge of the clinical and genetic features of the syndrome. The gene for the autosomal recessive form was identified as the ROR2 gene on chromosome 9q22. ROR2 is a receptor tyrosine kinase with orthologues in mouse and other species. The same gene, ROR2, has been shown to cause autosomal dominant brachydactyly B, but it is not known at present whether the autosomal dominant form of Robinow syndrome is also caused by mutations in ROR2.
Topics: Abnormalities, Multiple; Animals; Arm; Dwarfism; Facies; Genotype; Humans; Infant, Newborn; Male; Mice; Mutation, Missense; Penis; Phenotype; Radiography; Rats; Receptor Tyrosine Kinase-like Orphan Receptors; Receptors, Cell Surface; Ribs; Spinal Cord; Syndrome
PubMed: 12011143
DOI: 10.1136/jmg.39.5.305 -
Medicine Oct 2017Lumbosacral hemivertebrae causes unique problems as early trunk decompensation and long compensatory curve above. There are only a few reports on it. This case series is... (Review)
Review
Lumbosacral hemivertebrae causes unique problems as early trunk decompensation and long compensatory curve above. There are only a few reports on it. This case series is a fair supplement in the literatures.To evaluate the clinical and radiological outcomes of lumbosacral hemivertebrae resection through 1-stage posterior approach.Between 2005 and 2014, a consecutive series of congenital scoliosis due to lumbosacral hemivertebrae underwent hemivertebrae excision through 1-stage posterior only approach. Demographic, operative, radiological, and quality of life data were reviewed.The mean lumbosacral curve was 29 ± 7° preoperatively, 10 ± 3° postoperatively, and 13 ± 5° at the final follow up. The final correction rate was 55 ± 9%. The gravity trunk shift was 11 ± 3 mm preoperatively, 37 ± 12 mm (range, 6-49 mm) postoperatively, 14 ± 9 mm at final follow up. The rib cage shift was 36 ± 12 mm preoperatively, 19 ± 5 mm postoperatively, and 15 ± 4 mm at the final follow up. The mean blood loss was 527 ± 125 mL and the mean surgery time was 336 ± 98 minutes. The mean follow up period was 41 ± 6 months. Two patients underwent transient neurological complications, 2 had wound bad healing, and 1 got wound infection. No pseudoarthrosis and instrumentation failure was observed.One-stage posterior hemivertebrae excision could gain reasonable outcome. It is crucial to completely resect the hemivertebrae and the Y-shaped disc. Bending the rod to appropriate lordosis is helpful to close the convex side. Early surgical intervene is a preferred choice to restore the trunk balance and avoid extensive fusion. The neurological complication rate is high. Convex radiculopathy is often caused by retraction, it could recover at follow up.
Topics: Bone Diseases, Developmental; Child; Child, Preschool; Diskectomy; Female; Follow-Up Studies; Humans; Lumbar Vertebrae; Lumbosacral Region; Male; Retrospective Studies; Scoliosis; Treatment Outcome
PubMed: 29069034
DOI: 10.1097/MD.0000000000008393 -
Romanian Journal of Ophthalmology 2018Goldenhar syndrome (oculo-auriculo-vertebral dysplasia, OAVS) is a rare, congenital disease arising from the abnormal development of the first and second branchial... (Review)
Review
Goldenhar syndrome (oculo-auriculo-vertebral dysplasia, OAVS) is a rare, congenital disease arising from the abnormal development of the first and second branchial arches. The incidence is between 1:3500 and 1:5600, with a male: female ratio of 3:2. The etiopathogenesis is multifactorial and dependent on genetic and environmental factors but there are still many unknown aspects. The classic features of Goldenhar syndrome include ocular anomalies - epibulbar dermoids, microphthalmia and coloboma, ENT features such as preauricular tragi, hearing loss, low implantation of the auricular pavilion, micrognathia, and vertebral anomalies such as scoliosis or hemivertebrae. The abnormalities are unilateral in 85% of the cases. Ocular features, especially bilateral dermoids are seen in 60% of the cases. The treatment varies with age and systemic associations, from mainly cosmetic, in uncomplicated cases, to complex reconstructive surgeries in severe cases. While the oculoplastic surgeon manages the oculo-palpebral defects, severe forms require a multidisciplinary approach. Treatment should be individualized, adapted to age, as well as to the extent and severity of the disease. The paper is based on the editorial team cases and experience.
Topics: Abnormalities, Multiple; Female; Goldenhar Syndrome; Humans; Male; Ophthalmologists
PubMed: 30206552
DOI: No ID Found -
Frontiers in Surgery 2023To propose and validate a new classification of surgical methods for patients with subaxial cervical hemivertebrae.
OBJECTIVE
To propose and validate a new classification of surgical methods for patients with subaxial cervical hemivertebrae.
METHOD
This article reviewed cases diagnosed with subaxial cervical hemivertebrae in our hospital from January 2008 to December 2019. The results of preoperative (initial visit), postoperative and/or final follow-up were assessed using the Japanese Orthopaedic Association (JOA) score, Neck Disability Index (NDI) score, spinal balance parameters, and Scoliosis Research Society-22 Questionnaire (SRS-22). We also performed a reliability study to assess this classification.
RESULT
The classification includes three types. Each type can be divided into two subtypes, and a preliminary algorithm is proposed. Type I: There is an obvious appearance deformity in the neck, there are hemivertebrae in the cervical spine, and only a single hemivertebra of the subaxial cervical hemivertebra needs to be resected. Type II: There is an obvious appearance deformity in the neck, there are hemivertebrae in the cervical spine, and multiple subaxial cervical hemivertebrae need to be removed. Type III: No apparent deformity in the neck, at least one subaxial cervical hemivertebra existed or Klipper-Feil syndrome. Each type is divided into two subtypes, A and B, according to whether the upper and lower adjacent vertebral bodies of the rescected hemivertebra(e) are fused. We propose corresponding treatment methods for different types. We included a total of 121 patients and reviewed the prognosis for each type of patient. All patients achieved satisfactory results. The reliability study showed that the mean interobserver agreement was 91.8% (89.3%-93.4%), and the value was 0.845 (0.800-0.875). The intraobserver agreement ranged from 93.4% to 97.5%, with a mean value of 0.929 (0.881 to 0.954).
CONCLUSION
In our study, we proposed and validated a new classification of subaxial cervical hemivertebrae and proposed corresponding treatment plans for different classifications.
PubMed: 37009622
DOI: 10.3389/fsurg.2023.1123397