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Spondyloepiphyseal dysplasia, congenita

Known as: SED CONGENITA, SPONDYLOEPIPHYSEAL DYSPLASIA, CONGENITAL TYPE, SEDC 
National Institutes of Health

Related topics

Related topics

28 relations
Autosomal dominant inheritanceCOL2A1 wt AlleleCervical myelopathyCleft Palate

Broader (3)

Bone Diseases, DevelopmentalOsteochondrodysplasiasSpondyloepiphyseal Dysplasia

Papers overview

Semantic Scholar uses AI to extract papers important to this topic.
Highly Cited
2011
Highly Cited
2011
Mitigation of Multimodal SSR Using SEDC in the Shangdu Series-Compensated Power System
The Shangdu power plant has four 600-MW turbine-generators connected to the North-China Grid through two 500-kV transmissions… 
2005
2005
Novel amino acid substitution in the Y‐position of collagen type II causes spondyloepimetaphyseal dysplasia congenita
We report on monozygotic twins with short stature and severe spondyloepimetaphyseal dysplasia congenita (SEMDC) from the Polish… 
2003
2003
Molecular diagnosis in a pregnancy at risk for both spondyloepiphyseal dysplasia congenita and achondroplasia
In any medical service or procedure, standards need to be maintained, and this includes screening practice. The importance of… 
Review
2001
Review
2001
A case report of spondyloepiphyseal dysplasia congenita.
Spondyloepiphyseal dysplasia congenita (SED) is a rare form of skeletal systemic disease, characterized by congenital dwarfism… 
2000
2000
Boy with syndactylies, macrocephaly, and severe skeletal dysplasia: not a new syndrome, but two dominant mutations (GLI3 E543X and COL2A1 G973R) in the same individual.
An unusual combination of syndactylies, macrocephaly, and severe skeletal dysplasia was observed in a newborn infant. A history… 
1999
1999
Involvement of the humerus in two generations with spondyloepiphyseal dysplasia.
Children with spondyloepiphyseal dysplasia present with a disproportionate short stature, platyspondyly, scoliosis, coxa vara… 
Review
1998
Review
1998
Risk factors of myelopathy at the atlantoaxial level in spondyloepiphyseal dysplasia congenita
Abstract Spondyloepiphyseal dysplasia congenita (SEDC) can be accompanied by hypoplasia of the odontoid and/or lax ligaments… 
Highly Cited
1985
Highly Cited
1985
Pattern recognition in bone dysplasias.
Genetically different bone dysplasias may manifest themselves in similar patterns of skeletal abnormalities. It is proposed to… 
1982
1982
Vitreoretinal degeneration in spondyloepiphyseal dysplasia congenita.
Eighteen patients had ocular changes associated with spondyloepiphyseal dysplasia congenita, a rare cause of congenital dwarfism… 
1982
1982
Genetic heterogeneity of spondyloepiphyseal dysplasia congenita?
Two unrelated infants seen for evaluation of short stature at 14 and 27 months, respectively, had clinical and radiographic… 
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