scholarly journals Lethal skeletal dysplasia owing to double heterozygosity for achondroplasia and spondyloepiphyseal dysplasia congenita.

1992 ◽  
Vol 29 (11) ◽  
pp. 831-833 ◽  
Author(s):  
I D Young ◽  
N R Ruggins ◽  
J M Somers ◽  
J M Zuccollo ◽  
N Rutter
Keyword(s):  
Skeletal Dysplasia ◽  
Spondyloepiphyseal Dysplasia ◽  
Spondyloepiphyseal Dysplasia Congenita ◽  
Double Heterozygosity ◽  
Lethal Skeletal Dysplasia

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

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

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

A homozygous variant in the Lamin B receptor gene LBR results in a non-lethal skeletal dysplasia without Pelger-Huët anomaly

Bone ◽  
2020 ◽  
Vol 141 ◽  
pp. 115601
Author(s):  
Meagan Collins ◽  
Valancy Miranda ◽  
Justine Rousseau ◽  
Lisa E. Kratz ◽  
Philippe M. Campeau
Keyword(s):  
Skeletal Dysplasia ◽  
Receptor Gene ◽  
Lamin B ◽  
Homozygous Variant ◽  
Lamin B Receptor ◽  
Lethal Skeletal Dysplasia

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

scholarly journals Case report: targeted whole exome sequencing enables the first prenatal diagnosis of the lethal skeletal dysplasia Osteocraniostenosis

2020 ◽  
Vol 21 (1) ◽  
Author(s):  
Lara Pemberton ◽  
Robert Barker ◽  
Anna Cockell ◽  
Vijaya Ramachandran ◽  
Andrea Haworth ◽  
...  
Keyword(s):  
Case Report ◽  
Prenatal Diagnosis ◽  
Exome Sequencing ◽  
Whole Exome Sequencing ◽  
Skeletal Dysplasia ◽  
Genetic Disorder ◽  
Specific Gene ◽  
Ultrasound Images ◽  
Whole Exome ◽  
Lethal Skeletal Dysplasia

Abstract Background Osteocraniostenosis (OCS) is a rare genetic disorder characterised by premature closure of cranial sutures, gracile bones and perinatal lethality. Previously, diagnosis has only been possible postnatally on clinical and radiological features. This study describes the first prenatal diagnosis of OCS. Case presentation In this case prenatal ultrasound images were suggestive of a serious but non-lethal skeletal dysplasia. Due to the uncertain prognosis the parents were offered Whole Exome Sequencing (WES), which identified a specific gene mutation in the FAMIIIa gene. This mutation had previously been detected in two cases and was lethal in both perinatally. This established the diagnosis, a clear prognosis and allowed informed parental choice regarding ongoing pregnancy management. Conclusions This case report supports the use of targeted WES prenatally to confirm the underlying cause and prognosis of sonographically suspected abnormalities.

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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