Skip to search formSkip to main content
You are currently offline. Some features of the site may not work correctly.

Achondroplasia

Known as: Chondrodystrophia, Achondroplasia [Disease/Finding], osteosclerosis congenita 
An autosomal dominant disorder that is the most frequent form of short-limb dwarfism. Affected individuals exhibit short stature caused by rhizomelic… Expand
National Institutes of Health

Papers overview

Semantic Scholar uses AI to extract papers important to this topic.
Review
2019
Review
2019
Achondroplasia is the most common of the skeletal dysplasias that result in marked short stature (dwarfism). Although its… Expand
  • figure 1
  • figure 2
  • figure 3
  • figure 4
  • figure 6
Is this relevant?
Review
2008
Review
2008
Male factor has been considered a major contributory factor to infertility. Along with the conventional causes for male… Expand
  • figure 1
Is this relevant?
Highly Cited
2005
Highly Cited
2005
Achondroplasia is the most common condition associated with disproportionate short stature. Substantial information is available… Expand
  • figure 1
  • figure 3
  • figure 2
  • figure 5
  • figure 4
Is this relevant?
Highly Cited
2004
Highly Cited
2004
Achondroplasia is the most common genetic form of human dwarfism, for which there is presently no effective therapy. C-type… Expand
  • figure 1
  • figure 2
  • figure 3
  • figure 4
  • figure 5
Is this relevant?
Highly Cited
1996
Highly Cited
1996
The longitudinal growth of the skeleton arises from the continuous process of endochondral ossification occurring at the ends of… Expand
Is this relevant?
Highly Cited
1996
Highly Cited
1996
Endochondral ossification is a major mode of bone that occurs as chondrocytes undergo proliferation, hypertrophy, cell death, and… Expand
  • figure 1
  • figure 2
  • figure 3
  • figure 4
  • figure 5
Is this relevant?
Highly Cited
1995
Highly Cited
1995
Genomic DNA from 154 unrelated individuals with achondroplasia was evaluated for mutations in the fibroblast growth factor… Expand
Is this relevant?
Highly Cited
1994
Highly Cited
1994
Achondroplasia (ACH) is the most common genetic form of dwarfism. This disorder is inherited as an autosomal dominant trait… Expand
Is this relevant?
Highly Cited
1994
Highly Cited
1994
ACHONDROPLASIA, the most common cause of chondrodysplasia in man (1 in 15,000 live births), is a condition of unknown origin… Expand
Is this relevant?
Highly Cited
1954
Highly Cited
1954
  • H. B. C. Verbiest
  • The Journal of bone and joint surgery. British…
  • 1954
  • Corpus ID: 17289265
1. A clinical condition is described in which there are symptoms of compression of the caudal nerve roots on standing or walking… Expand
  • figure 1
  • figure 3
  • figure 5
  • figure 7
  • figure 9
Is this relevant?