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Spondyloperipheral dysplasia short ulna

Known as: Familial spondyloepiphyseal dysplasia, Spondyloperipheral Dysplasia With Short Ulna, Spondyloperipheral dysplasia 
 
National Institutes of Health

Related topics

Related topics

7 relations
Autosomal dominant inheritanceBroad palmCongenital pectus carinatumKyphosis deformity of spine
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Broader (1)

Osteochondrodysplasias

Papers overview

Semantic Scholar uses AI to extract papers important to this topic.
2012
2012
Spondyloperipheral dysplasia as the mosaic form of platyspondylic lethal skeletal dyplasia torrance type in mother and fetus with the same COL2A1 mutation.
We describe a fetus with platyspondylic lethal skeletal dysplasia, Torrance type (PLSD-T), a rare skeletal dysplasia… Expand
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2011
2011
Prenatal manifestation and management of a mother and child affected by spondyloperipheral dysplasia with a C-propeptide mutation in COL2A1: case report
It is not unusual for patients with "rare" conditions, such as skeletal dysplasias, to remain undiagnosed until adulthood. In… Expand
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2007
2007
Czech dysplasia metatarsal type: another type II collagen disorder
Czech dysplasia metatarsal type is an autosomal-dominant disorder characterized by an early-onset, progressive… Expand
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2004
2004
Spondyloperipheral dysplasia is caused by truncating mutations in the C-propeptide of COL2A1.
The term "spondyloperipheral dysplasia" (SPD) has been applied to the unusual combination of platyspondyly and brachydactyly as… Expand
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2003
2003
Spondyloepiphyseal dysplasia Maroteaux type: report of three patients from two families and exclusion of type II collagen defects.
Spondyloepiphyseal dysplasia (SED) Maroteaux type is an autosomal dominant skeletal dysplasia, characterized by spondylar… Expand
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Review
2001
Review
2001
[Spondyloperipheral dysplasia].
Spondyloperipheral dysplasia is a disorder that impairs bone growth. This condition is characterized by flattened bones of the… Expand
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2001
2001
A new form of spondyloperipheral dysplasia with facial dysmorphism, flattened vertebrae, hypoplastic pelvis, brachydactyly and soft tissue syndactyly
Abstract We report the case of a 9-year-old Japanese boy with spondyloperipheral skeletal dysplasia associated with facial… Expand
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1996
1996
A specific collagen type II gene (COL2A1) mutation presenting as spondyloperipheral dysplasia.
We report on a patient with a skeletal dysplasia characterized by short stature, spondylo-epiphyseal involvement, and… Expand
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1995
1995
Spondyloperipheral dysplasia.
We present a patient with spondyloperipheral dysplasia, a rare skeletal dysplasia which is characterized by vertebral body… Expand
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1977
1977
An unusual familial spondyloepiphyseal dysplasia: "spondyloperipheral dysplasia".
 
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