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Osteochondrodysplasias

Known as: Congenital Skeletal Dysplasia, Skeletal dysplasia, Osteochondrodysplasia 
A term referring to disorders characterized by abnormalities in the development of bones and cartilage.
National Institutes of Health

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Narrower (43)

AchondrogenesisAcrodysostosisAtelosteogenesis Type 3Boomerang dysplasia
AchondroplasiaChondrodysplasia PunctataCongenital clubfootCongenital hypoplasia of radius

Papers overview

Semantic Scholar uses AI to extract papers important to this topic.
Highly Cited
2012
Highly Cited
2012
A mutation in the thyroid hormone receptor alpha gene.
Thyroid hormones exert their effects through alpha (TRα1) and beta (TRβ1 and TRβ2) receptors. Here we describe a child with… 
Highly Cited
2007
Highly Cited
2007
Frequent activating FGFR2 mutations in endometrial carcinomas parallel germline mutations associated with craniosynostosis and skeletal dysplasia syndromes
Endometrial carcinoma is the most common gynecological malignancy in the United States. Although most women present with early… 
Highly Cited
2006
Highly Cited
2006
CRTAP Is Required for Prolyl 3- Hydroxylation and Mutations Cause Recessive Osteogenesis Imperfecta
Highly Cited
2004
Highly Cited
2004
Mutations in the transmembrane natriuretic peptide receptor NPR-B impair skeletal growth and cause acromesomelic dysplasia, type Maroteaux.
The homodimeric transmembrane receptor natriuretic peptide receptor B (NPR-B [also known as guanylate cyclase B, GC-B, and GUC2B… 
Highly Cited
2000
Highly Cited
2000
Perlecan, the major proteoglycan of basement membranes, is altered in patients with Schwartz-Jampel syndrome (chondrodystrophic myotonia)
Schwartz-Jampel syndrome (SJS1) is a rare autosomal recessive disorder characterized by permanent myotonia (prolonged failure of… 
Highly Cited
1999
Highly Cited
1999
Perlecan is essential for cartilage and cephalic development
Perlecan, a large, multi-domain, heparan sulfate proteoglycan originally identified in basement membrane, interacts with… 
Highly Cited
1998
Highly Cited
1998
Mutation and deletion of the pseudoautosomal gene SHOX cause Leri-Weill dyschondrosteosis
Leri-Weill Dyschondrosteosis (LWD; OMIM 127300) is a dominantly inherited skeletal dysplasia characterized by disproportionate… 
Highly Cited
1997
Highly Cited
1997
Basilar invagination in osteogenesis imperfecta and related osteochondrodysplasias: medical and surgical management.
Osteogenesis imperfecta (OI) is a heritable disorder of bone development caused by defective collagen synthesis. Basilar… 
Highly Cited
1995
Highly Cited
1995
A recurrent mutation in the tyrosine kinase domain of fibroblast growth factor receptor 3 causes hypochondroplasia
Hypochondroplasia (MIM 146000) is an autosomal dominant skeletal dysplasia with skeletal features similar to but milder than… 
Highly Cited
1994
Highly Cited
1994
The diastrophic dysplasia gene encodes a novel sulfate transporter: Positional cloning by fine-structure linkage disequilibrium mapping
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