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Spondyloepiphyseal Dysplasia

Known as: Dysplasia, Spondyloepiphyseal, Spondyloepiphyseal dysplasia tarda, spondyloepiphyseal dysplasias 
A disorder of bone growth affecting the vertebrae and the ends of the long bones (epiphyses). [HPO:probinson]
National Institutes of Health

Related topics

Related topics

3 relations

Broader (2)

OsteochondrodysplasiasSpondyloepiphyseal Dysplasia Tarda, X-Linked

Narrower (1)

Spondyloepiphyseal dysplasia, congenita

Papers overview

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2012
2012
A Novel GUSB Mutation in Brazilian Terriers with Severe Skeletal Abnormalities Defines the Disease as Mucopolysaccharidosis VII
Hundreds of different human skeletal disorders have been characterized at molecular level and a growing number of resembling… 
2005
2005
Kniest dysplasia is caused by dominant collagen II (COL2A1) mutations: Parental somatic mosaicism manifesting as Stickler phenotype and mild spondyloepiphyseal dysplasia
We describe two unrelated children with Kniest dysplasia, a severe autosomal dominant form of chondrodysplastic dwarfism… 
1995
1995
CODAS syndrome: a new distinct MCA/MR syndrome with radiological changes of spondyloepiphyseal dysplasia. Another case report.
We report on a young girl with psychomotor delay, cataracts, abnormally shaped teeth, malformed ears, and radiological findings… 
1994
1994
New autosomal dominant form of spondyloepiphyseal dysplasia presenting with atlanto-axial instability.
We present a family with a radiologically distinct new form of autosomal dominant spondyloepiphyseal dysplasia, presenting with… 
1991
1991
Diagnosis of Atlantoaxial Subluxation in Morquio's Syndrome and Spondyloepiphyseal Dysplasia Congenita
Compression of the spinal cord due to atlantoaxial subluxation was diagnosed in a patient with Morquio's syndrome and in another… 
1989
1989
Spondyloepiphyseal dysplasia associated with progressive arthropathy
SummaryA family is presented with three affected siblings suffering from a rare form of spondyloepiphyseal dysplasia with… 
Review
1985
Review
1985
Laryngotracheal stenosis in spondyloepiphyseal dysplasia
Laryngotracheal stenosis has not been reported previously as a manifestation of spondylocpiphyseal dysplasiu. Two recent cases… 
1978
1978
Recessively inherited, late onset spondylar dysplasia and peripheral corneal opacity with anomalies in urinary mucopolysaccharides: a possible error of chondroitin-6-sulfate synthesis.
Two male and two female sibs with an unusual form of spondyloepiphyseal dysplasia were reported. The main clinical features were… 
1970
1970
A family study of spondyloepiphyseal dysplasia.
I have presented six generations of a family with a genetic disease best described as a mixture of multiple epiphyseal dysplasia… 
1968
1968
Pseudo-Achondroplastic Type of Spondyloepiphyseal Dysplasia (type Maroteaux-Lamy)
At the end of the first week the infant had a febrile illness with vomiting, unresponsive to antibiotics. Despite exhaustive… 
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