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96 results

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Quoted phrase not found in phrase index: "Microcephaly-cervical spine fusion anomalies syndrome"
Page 1
Klippel-Feil syndrome: a review of the literature.
Frikha R. Frikha R. Clin Dysmorphol. 2020 Jan;29(1):35-37. doi: 10.1097/MCD.0000000000000301. Clin Dysmorphol. 2020. PMID: 31577545 Review.
Klippel-Feil syndrome is a congenital defect in the formation or segmentation of the cervical spine. ...In this review, we focussed on clinical heterogeneity; radiographic abnormalities and genetic etiology in Klippel-Feil syndrome. We insist on compre …
Klippel-Feil syndrome is a congenital defect in the formation or segmentation of the cervical spine. ...In this review, we foc …
COL11A2 as a candidate gene for vertebral malformations and congenital scoliosis.
Rebello D, Wohler E, Erfani V, Li G, Aguilera AN, Santiago-Cornier A, Zhao S, Hwang SW, Steiner RD, Zhang TJ, Gurnett CA, Raggio C, Wu N, Sobreira N, Giampietro PF, Ciruna B. Rebello D, et al. Hum Mol Genet. 2023 Sep 16;32(19):2913-2928. doi: 10.1093/hmg/ddad117. Hum Mol Genet. 2023. PMID: 37462524
Human vertebral malformations (VMs) have an estimated incidence of 1/2000 and are associated with significant health problems including congenital scoliosis (CS) and recurrent organ system malformation syndromes such as VACTERL (vertebral anomalies; anal abnormal …
Human vertebral malformations (VMs) have an estimated incidence of 1/2000 and are associated with significant health problems including cong …
Central nervous system and cervical spine abnormalities in Apert syndrome.
Breik O, Mahindu A, Moore MH, Molloy CJ, Santoreneos S, David DJ. Breik O, et al. Childs Nerv Syst. 2016 May;32(5):833-8. doi: 10.1007/s00381-016-3036-z. Epub 2016 Feb 10. Childs Nerv Syst. 2016. PMID: 26861132
Multilevel fusion was seen in 20 %. Other abnormalities were C1 spina bifida occulta (7 %) and atlanto-axial subluxation (7 %). CONCLUSION: Multiple CNS and cervical spine (c-spine) abnormalities are common in Apert syndrome. The signific …
Multilevel fusion was seen in 20 %. Other abnormalities were C1 spina bifida occulta (7 %) and atlanto-axial subluxation (7 %) …
Spinal Fusion in Patients With Classic Amyoplasia and General Arthrogryposis.
Riepen D, Lachmann EE, Wahlig B, Thornberg DC, Rathjen KE. Riepen D, et al. J Pediatr Orthop. 2023 Oct 1;43(9):e751-e756. doi: 10.1097/BPO.0000000000002483. Epub 2023 Jul 27. J Pediatr Orthop. 2023. PMID: 37503867
METHODS: IRB approved retrospective review of patients with a diagnosis of classic amyoplasia and general arthrogryposis who had a primary definitive posterior spinal fusion between 1990 and 2017 at a single pediatric institution. Patients with distal and syndromic …
METHODS: IRB approved retrospective review of patients with a diagnosis of classic amyoplasia and general arthrogryposis who had a primary d …
Klippel-Feil syndrome misdiagnosed as spondyloarthropathy: case-based review.
Čota S, Žagar I, Delimar V, Pap M, Perić D, Perić P. Čota S, et al. Rheumatol Int. 2019 Sep;39(9):1655-1660. doi: 10.1007/s00296-019-04346-0. Epub 2019 Jun 18. Rheumatol Int. 2019. PMID: 31214770 Review.
The axial skeletal involvement, peripheral and extra-articular manifestations and an association with the major histocompatibility complex class I human leukocyte antigen-B27 (HLA B27) are commonly shared features of SpAs. Klippel-Feil syndrome (KFS) is a rare congenital d …
The axial skeletal involvement, peripheral and extra-articular manifestations and an association with the major histocompatibility complex c …
Long-term outcomes in sacral agenesis.
Thomson C, Mahmood A, Yun SM, Hartley L, Botchu R, Mohmoud K, Sewell M, Mehta J. Thomson C, et al. Childs Nerv Syst. 2024 Jun;40(6):1791-1797. doi: 10.1007/s00381-024-06326-7. Epub 2024 Feb 27. Childs Nerv Syst. 2024. PMID: 38411707
INTRODUCTION: Sacral agenesis (SA) includes a range of clinical presentations of varying severity, with implications for function and quality of life (QoL). Diagnosis is often made perinatally, and prognostic discussions become an important aspect of parental counselling. …
INTRODUCTION: Sacral agenesis (SA) includes a range of clinical presentations of varying severity, with implications for function and qualit …
The cervical spine in Saethre-Chotzen syndrome.
Anderson PJ, Hall CM, Evans RD, Hayward RD, Harkness WJ, Jones BM. Anderson PJ, et al. Cleft Palate Craniofac J. 1997 Jan;34(1):79-82. doi: 10.1597/1545-1569_1997_034_0079_tcsisc_2.3.co_2. Cleft Palate Craniofac J. 1997. PMID: 9003917
Twenty patients with a diagnosis of Saethre-Chotzen syndrome had their cervical spine radiographs reviewed. Radiologic abnormalities including vertebral fusion were present in 9 of the 20 patients. ...These results reveal that the incidence of cervical …
Twenty patients with a diagnosis of Saethre-Chotzen syndrome had their cervical spine radiographs reviewed. Radiologic abno …
CONGENITAL FUSION OF THE CERVICAL VERTEBRAE.
GRAY SW, ROMAINE CB, SKANDALAKIS JE. GRAY SW, et al. Surg Gynecol Obstet. 1964 Feb;118:373-85. Surg Gynecol Obstet. 1964. PMID: 14119124 Review. No abstract available.
Congenital cervical spinal fusion: a study in Apert syndrome.
Thompson DN, Slaney SF, Hall CM, Shaw D, Jones BM, Hayward RD. Thompson DN, et al. Pediatr Neurosurg. 1996 Jul;25(1):20-7. doi: 10.1159/000121091. Pediatr Neurosurg. 1996. PMID: 9055330
The occurrence and pattern of cervical spinal fusions have been assessed in 59 cases of Apert syndrome (acrocephalosyndactyly type 1). ...Small size of the vertebral body and reduced intervertebral disc space were indicators of subsequent bony fusion. The …
The occurrence and pattern of cervical spinal fusions have been assessed in 59 cases of Apert syndrome (acrocephalosyndactyly …
Congenital variations of the upper cervical spine and their importance in preoperative diagnosis. A case report and a review of the literature.
Lampropoulou-Adamidou K, Athanassacopoulos M, Karampinas PK, Vlamis J, Korres DS, Pneumaticos SG. Lampropoulou-Adamidou K, et al. Eur J Orthop Surg Traumatol. 2013 Jul;23 Suppl 1:S101-5. doi: 10.1007/s00590-013-1216-z. Epub 2013 Apr 6. Eur J Orthop Surg Traumatol. 2013. PMID: 23563588 Review.
Failure to recognise these variations can complicate operations on the upper cervical spine. We present a patient with recent onset of cervical myelopathy due to stenosis at the C3-4 level. Preoperative evaluation identified Klippel-Feil syndrome with cervical fu …
Failure to recognise these variations can complicate operations on the upper cervical spine. We present a patient with recent onset o …
96 results