scholarly journals C1-C2 Luxation in Patient with Down Syndrome

2018 ◽  
Vol 24 (4) ◽  
pp. 316-321
Author(s):  
Maurus Marques de Almeida Holanda ◽  
Rayan Haquim Pinheiro Santos ◽  
Gustavo De Moura Peixoto ◽  
Normando Guedes Pereira Neto ◽  
Luiz Ricardo Santiago Melo
Keyword(s):  
Down Syndrome ◽  
Case Report ◽  
Cervical Spine ◽  
Clinical Examination ◽  
Chromosomal Abnormality ◽  
Chromosome 21 ◽  
Lateral Radiograph ◽  
Atlantoaxial Instability ◽  
Genetic Condition ◽  
Clinical Consequences

Introduction: Down syndrome is caused by trisomy of chromosome 21, and it is the most common chromosomal abnormality in humans. This genetic condition is characterized by multiple skeletal abnormalities, including atlantoaxial instability that occurs in 9-31% of patients presenting clinical consequences in 1-3% of them. This study aims to report a case of atlantoaxial instability with clinical repercussions of quadriparesia. Case Report: A case of a 10-year-old boy, with Down syndrome, who could notget up for three months is reported. Clinical examination revealed quadriparesis. The lateral radiograph of the cervical spine showed a atlanto-odontoid distance of 6mm, confirming atlantoaxial instability. 

scholarly journals A prenatal diagnosis case of partial duplication 21q21.1-q21.2 with normal phenotype maternally inherited

2021 ◽  
Vol 14 (1) ◽  
Author(s):  
Chunyan Jin ◽  
Zhiping Gu ◽  
Xiaohan Jiang ◽  
Pei Yu ◽  
Tianhui Xu
Keyword(s):  
Down Syndrome ◽  
Pregnant Woman ◽  
Prenatal Testing ◽  
Chromosome 21 ◽  
Chromosomal Microarray ◽  
Chromosomal Microarray Analysis ◽  
Serological Screening ◽  
Partial Duplication ◽  
Her Family ◽  
Clinical Consequences

Abstract Background Down syndrome is characterized by trisomy 21 or partial duplication of chromosome 21. Extensive studies have focused on the identification of the Down Syndrome Critical Region (DSCR). We aim to provide evidence that duplication of 21q21.1-q21.2 should not be included in the DSCR and it has no clinical consequences on the phenotype. Case presentation Because serological screening was not performed at the appropriate gestational age, noninvasive prenatal testing (NIPT) analysis was performed for a pregnant woman with normal prenatal examinations at 22 weeks of gestation. The NIPT results revealed a 5.8 Mb maternally inherited duplication of 21q21.1-q21.2. To assess whether the fetus also carried this duplication, ultrasound-guided amniocentesis was conducted, and the result of chromosomal microarray analysis (CMA) with amniotic fluid showed a 6.7 Mb duplication of 21q21.1-q21.2 (ranging from position 18,981,715 to 25,707,009). This partial duplication of 21q21.1-q21.2 in the fetus was maternally inherited. After genetic counseling, the pregnant woman and her family decided to continue the pregnancy. Conclusion Our case clearly indicates that 21q21.1-q21.2 duplication is not included in the DSCR and most likely has no clinical consequences on phenotype.

scholarly journals Morphologic variations of the second cervical vertebra in Down syndrome compared with age-matched peers

2019 ◽  
Vol 30 (2) ◽  
pp. 175-181
Author(s):  
Ryan C. Hofler ◽  
Daniel M. Heiferman ◽  
Ayrin Molefe ◽  
Ryan LeDuc ◽  
Stephen J. Johans ◽  
...  
Keyword(s):  
Down Syndrome ◽  
Cervical Spine ◽  
Vertebral Body ◽  
Posterior Wall ◽  
Coronal Plane ◽  
Atlantoaxial Instability ◽  
Transverse Foramen ◽  
The Mean ◽  
Axis Length ◽  
Age And Sex

OBJECTIVEAtlantoaxial instability is an important cause of pain and neurological dysfunction in patients with Down syndrome (DS), frequently requiring instrumented fusion of the upper cervical spine. This study provides a quantitative analysis of C2 morphology in DS patients compared with their peers without DS to identify differences that must be considered for the safe placement of instrumentation.METHODSA retrospective chart review identified age-matched patients with and without DS with a CT scan of the cervical spine. Three-dimensional reconstructions of these scans were made with images along the axis of, and perpendicular to, the pars, lamina, facet, and transverse foramen of C2 bilaterally. Two of the authors performed independent measurements of anatomical structures using these images, and the average of the 2 raters’ measurements was recorded. Pedicle height and width; pars axis length (the distance from the facet to the anterior vertebral body through the pars); pars rostrocaudal angle (angle of the pars axis length to the endplate of C2); pars axial angle (angle of the pars axis length to the median coronal plane); lamina height, length, and width; lamina angle (angle of the lamina length to the median coronal plane); and transverse foramen posterior distance (the distance from the posterior wall of the transverse foramen to the tangent of the posterior vertebral body) were measured bilaterally. Patients with and without DS were compared using a mixed-effects model accounting for patient height.RESULTSA total of 18 patients with and 20 patients without DS were included in the analysis. The groups were matched based on age and sex. The median height was 147 cm (IQR 142–160 cm) in the DS group and 165 cm (IQR 161–172 cm) in the non-DS group (p < 0.001). After accounting for variations in height, the mean pars rostrocaudal angle was greater (50.86° vs 45.54°, p = 0.004), the mean transverse foramen posterior distance was less (−1.5 mm vs +1.3 mm, p = 0.001), and the mean lamina width was less (6.2 mm vs 7.7 mm, p = 0.038) in patients with DS.CONCLUSIONSPatients with DS had a steeper rostrocaudal trajectory of the pars, a more posteriorly positioned transverse foramen posterior wall, and a narrower lamina compared with age- and sex-matched peers. These variations should be considered during surgical planning, as they may have implications to safe placement of instrumentation.

Radiological Findings and Dynamic Aspects of Stomatognathic Structures in Treacher Collins Syndrome: Clinical Case Report

2007 ◽  
Vol 44 (6) ◽  
pp. 678-682 ◽  
Author(s):  
Adriana de Oliveira Lira Ortega ◽  
Liete Maria Liarte Figueiredo Zwir ◽  
Ana Lídia Ciamponi ◽  
Antônio Sérgio Guimarães ◽  
Luis Garcia Alonso
Keyword(s):  
Computed Tomography ◽  
Case Report ◽  
Temporomandibular Joint ◽  
Clinical Examination ◽  
Clinical Case ◽  
Treacher Collins Syndrome ◽  
Radiological Findings ◽  
Clinical Consequences ◽  
Tomography Method ◽  
Symmetric Structures

Treacher Collins syndrome usually affects bilateral and symmetric structures that include the orbits, mandible, and ears. The purpose of this report is to describe a clinical case of the syndrome, focusing on the anatomy of the temporomandibular joint, which was assessed using the computed tomography method. Clinical examination included evaluation of mandibular dynamics, investigation of temporomandibular dysfunction, and measurement of bite force. Significant morphological and functional alterations were observed but without significant documented clinical consequences.

scholarly journals Fibrous Dysplasia of the Cervical Spine with Atlantoaxial Instability : A Case Report and Review of the Literatures

2000 ◽  
Vol 14 (3) ◽  
pp. 223-230
Author(s):  
Koang Hum Bak ◽  
Hyeong Joong Yi ◽  
Il Seung Choe ◽  
Jae Min Kim ◽  
Choong Hyun Kim
Keyword(s):  
Case Report ◽  
Cervical Spine ◽  
Fibrous Dysplasia ◽  
Atlantoaxial Instability

Atlantoaxial Instability in Down Syndrome: Subject Review

PEDIATRICS ◽  
1995 ◽  
Vol 96 (1) ◽  
pp. 151-154
Author(s):  
Keyword(s):  
Down Syndrome ◽  
Cervical Spine ◽  
Sports Medicine ◽  
Cervical Vertebrae ◽  
Odontoid Process ◽  
Disabled Persons ◽  
Atlantoaxial Instability ◽  
Atlantoaxial Joint ◽  
Special Olympics ◽  
Increased Risk

DEFINITION OF THE PROBLEM In 1984, the American Academy of Pediatrics (AAP) published a position statement on screening for atlantoaxial instability (AAI) in youth with Down syndrome.1 In that statement, the AAP supported the requirement introduced by the Special Olympics in 1983 that lateral neck radiographs be obtained for individuals with Down syndrome before they participate in the Special Olympics' nationwide competitive program for developmentally disabled persons. Those participants with radiologic evidence of instability are banned from certain activities that may be associated with increased risk of injury to the cervical spine. This policy seemed to be prudent in light of the information available at that time. However, the AAP Committee on Sports Medicine and Fitness recently has reviewed the data on which this recommendation was based and has decided that uncertainty exists concerning the value of cervical spine radiographs in screening for possible catastrophic neck injury in athletes with Down syndrome. The 1984 statement therefore has been retired. This review discusses the available research data on this subject. BACKGROUND AAI, also called atlantoaxial subluxation, denotes increased mobility at the articulation of the first and second cervical vertebrae (atlantoaxial joint). This condition is found not only in patients who have Down syndrome but also in some patients who have rheumatoid arthritis, abnormalities of the odontoid process of the axis, and various forms of dwarfism.1 The causes of AAI are not well understood but may include abnormalities of the ligaments that maintain the integrity of the C-1 and C-2 articulation, bony abnormalities of C-1 or C-2, or both.1-11

Craniovertebral Junction Abnormalities in Down Syndrome

Neurosurgery ◽  
2010 ◽  
Vol 66 (suppl_3) ◽  
pp. A32-A38 ◽  
Author(s):  
Todd C. Hankinson ◽  
Richard C.E. Anderson
Keyword(s):  
Down Syndrome ◽  
Cervical Spine ◽  
Craniovertebral Junction ◽  
Atlantoaxial Instability ◽  
Special Olympics ◽  
Cervical Instability ◽  
Neurologic Injury ◽  
Current Opinion ◽  
Children With Down Syndrome ◽  
Upper Cervical

Abstract CHILDREN WITH DOWN syndrome may have occipitocervical and atlantoaxial instability. To prevent neurologic injury during athletic competitions, such as the Special Olympics, radiographic cervical spine screening was established in 1983 as a prerequisite for participation in some events. This review discusses the biomechanics underlying upper cervical instability in children with Down syndrome, the evolution of cervical spine screening protocols, and current opinion regarding management for children with Down syndrome and upper cervical instability.

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