Surgical Treatment for Atlantoaxial Subluxation With Myelopathy in Spondyloepiphyseal Dysplasia Congenita

Spine ◽  
2004 ◽  
Vol 29 (21) ◽  
pp. E488-E491 ◽  
Author(s):  
Kota Miyoshi ◽  
Kozo Nakamura ◽  
Nobuhiko Haga ◽  
Yoji Mikami
Keyword(s):  
Surgical Treatment ◽  
Atlantoaxial Subluxation ◽  
Spondyloepiphyseal Dysplasia ◽  
Spondyloepiphyseal Dysplasia Congenita

Diagnosis of Atlantoaxial Subluxation in Morquio's Syndrome and Spondyloepiphyseal Dysplasia Congenita

1991 ◽  
Vol 33 (5) ◽  
pp. 633-638 ◽  
Author(s):  
Eiji Takeda ◽  
Toshiaki Hashimoto ◽  
Masanobu Tayama ◽  
Masahito Miyazaki ◽  
Etsuhisa Shirakawa ◽  
...  
Keyword(s):  
Atlantoaxial Subluxation ◽  
Spondyloepiphyseal Dysplasia ◽  
Spondyloepiphyseal Dysplasia Congenita ◽  
Morquio's Syndrome

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

Surgical Treatment for Atlantoaxial Subluxation Associated With Mixed Connective Tissue Disease

Orthopedics ◽  
2006 ◽  
Vol 29 (4) ◽  
pp. 369-370
Author(s):  
Kazuichiro Ohnishi ◽  
Kei Miyamoto ◽  
Koji Hashimoto ◽  
Katsuji Shimizu ◽  
Hideo Hosoe
Keyword(s):  
Surgical Treatment ◽  
Connective Tissue ◽  
Connective Tissue Disease ◽  
Mixed Connective Tissue Disease ◽  
Atlantoaxial Subluxation

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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