scholarly journals The Managment of cervical spine abnormalities in children with spondyloepiphyseal dysplasia congenita

Medicine ◽  
2019 ◽  
Vol 98 (1) ◽  
pp. e13780 ◽  
Author(s):  
Ali Al Kaissi ◽  
Sergey Ryabykh ◽  
Olga M. Pavlova ◽  
Polina Ochirova ◽  
Vladimir Kenis ◽  
...  
Keyword(s):  
Cervical Spine ◽  
Spondyloepiphyseal Dysplasia ◽  
Spondyloepiphyseal Dysplasia Congenita ◽  
Spine Abnormalities

Stabilization of the Cervical Spine in Spondyloepiphyseal Dysplasia Congenita

Neurosurgery ◽  
1991 ◽  
Vol 28 (4) ◽  
pp. 580-583 ◽  
Author(s):  
Mark S. LeDoux ◽  
Richard C. Naftalis ◽  
Patricia A. Aronin
Keyword(s):  
Cervical Spine ◽  
Bone Dysplasia ◽  
Clinical Findings ◽  
Radiographic Features ◽  
Spondyloepiphyseal Dysplasia ◽  
Odontoid Hypoplasia ◽  
Spondyloepiphyseal Dysplasia Congenita ◽  
Lumbar Hyperlordosis ◽  
Vertebral Bodies ◽  
Ocular Hypertelorism

Abstract Spondyloepiphyseal dysplasia congenita is an inheritable bone dysplasia causing abnormalities that manifest at birth and primarily involve the spine and proximal epiphyses. The clinical findings include short-trunk dwarfism, myopia, frequent retinal detachment, shortening of the spine and proximal extremities, mild thoracic kyphoscoliosis, a barrel-shaped thorax, a short neck, and mild ocular hypertelorism. The characteristic radiographic features are a generalized delay in ossification, flattening and dysplasia of the vertebral bodies, pelvic dysplasia, and retarded ossification of the femoral head and neck. Other radiographic features of interest to the neurosurgeon may be platybasia, kyphoscoliosis, lumbar hyperlordosis, and odontoid hypoplasia. A case of spondyloepiphyseal dysplasia congenita is presented in which an unstable and markedly dysplastic cervical spine was stabilized with Halifax interlaminar clamps and sublaminar wires. The clinical findings and radiographic features are presented and the etiology and neurosurgical management of spondyloepiphyseal dysplasia congenita are discussed.

scholarly journals A novel COL2A1 mutation causing spondyloepiphyseal dysplasia congenita in a Chinese family

2021 ◽  
Vol 35 (4) ◽  
Author(s):  
Tangjun Zhou ◽  
Xiao Yang ◽  
Zhiqian Chen ◽  
Yifan Zhou ◽  
Xiankun Cao ◽  
...  
Keyword(s):  
Chinese Family ◽  
Spondyloepiphyseal Dysplasia ◽  
Spondyloepiphyseal Dysplasia Congenita ◽  
Col2a1 Mutation

Double heterozygosity for pseudoachondroplasia and spondyloepiphyseal dysplasia congenita

2001 ◽  
Vol 104 (2) ◽  
pp. 140-146 ◽  
Author(s):  
Sheila Unger ◽  
Jarmo Korkko ◽  
Deborah Krakow ◽  
Ralph S. Lachman ◽  
David L. Rimoin ◽  
...  
Keyword(s):  
Spondyloepiphyseal Dysplasia ◽  
Spondyloepiphyseal Dysplasia Congenita ◽  
Double Heterozygosity

Neurosurgical Interventions for Spondyloepiphyseal Dysplasia Congenita: Clinical Presentation and Assessment of the Literature

2013 ◽  
Vol 80 (3-4) ◽  
pp. 437.e1-437.e8 ◽  
Author(s):  
Anand Veeravagu ◽  
Shivanand P. Lad ◽  
Joaquin Q. Camara-Quintana ◽  
Bowen Jiang ◽  
Lawrence Shuer
Keyword(s):  
Clinical Presentation ◽  
Spondyloepiphyseal Dysplasia ◽  
Spondyloepiphyseal Dysplasia Congenita

Pharyngeal Function in Patients with Rheumatoid Arthritis of the Cervical Spine and Temporomandibular Joint

1987 ◽  
Vol 28 (1) ◽  
pp. 35-39 ◽  
Author(s):  
O. Ekberg ◽  
I. Redlund-Johnell ◽  
K. G. Sjöblom
Keyword(s):  
Rheumatoid Arthritis ◽  
Cervical Spine ◽  
Temporomandibular Joint ◽  
Turning Points ◽  
Occipital Bone ◽  
Spine Abnormalities ◽  
Mechanical Factors ◽  
Pharyngeal Function

Pharyngeal function was studied in 31 patients with rheumatoid arthritis. Eighteen of these patients had dysphagia. Cervical spine abnormalities were present in 14. Destruction of the capitulum and/or ramus of the mandible was registered in 9. Pharyngeal dysfunction was revealed in 20. Patients with a vertical dislocation of the C1–C2 in relation to the occipital bone and patients with destruction of the capitulum and/or ramus of the mandible had an increased frequency of pharyngeal dysfunction. Pharyngeal dysfunction is thought to be due to mechanical factors and caused by derangements of muscular attachments and turning points.

scholarly journals COL2A1 Gene Mutations: Mechanisms of Spondyloepiphyseal Dysplasia Congenita

2019 ◽  
Vol Volume 12 ◽  
pp. 235-238
Author(s):  
Raffaella Nenna ◽  
Arianna Turchetti ◽  
Gerarda Mastrogiorgio ◽  
Fabio Midulla
Keyword(s):  
Gene Mutations ◽  
Spondyloepiphyseal Dysplasia ◽  
Spondyloepiphyseal Dysplasia Congenita ◽  
Em Gene

Dwarfism: New Interest Area for Adapted Physical Activity

1996 ◽  
Vol 13 (1) ◽  
pp. 1-15 ◽  
Author(s):  
Leslie J. Low ◽  
Mary J. Knudsen ◽  
Claudine Sherrill
Keyword(s):  
Physical Activity ◽  
Physical Education ◽  
Physical Activities ◽  
Adapted Physical Activity ◽  
Diastrophic Dysplasia ◽  
Spondyloepiphyseal Dysplasia ◽  
Cartilage Hair Hypoplasia ◽  
Spondyloepiphyseal Dysplasia Congenita ◽  
Spondyloepiphyseal Dysplasia Tarda ◽  
Number Of Individuals

In recent years, the number of individuals with dwarfism participating in sports and physical activities has increased. The Dwarf Athletic Association of America (DAAA) has grown from 30 athletes in 1985 to over 600 in 1994. This paper details the structural, intellectual, motor, orthopedic, and medical characteristics of six types of dwarfism (achondroplasia, hypochon-droplasia, cartilage-hair hypoplasia, diastrophic dysplasia, spondyloepiphyseal dysplasia tarda, and spondyloepiphyseal dysplasia congenita) seen in individuals currently participating in eight DAAA-sanctioned sports. Implications and modifications for participation in physical activity, physical education, and sport are included.

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