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Achondrogenesis

Known as: Achondrogenesis Syndrome 
A rare group of disorders characterized by defective development of bones and cartilage.
National Institutes of Health

Related topics

Related topics

7 relations
AchondroplasiaDwarfismMusculoskeletal SystemSkeletal system

Broader (1)

Osteochondrodysplasias

Papers overview

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Highly Cited
2000
Highly Cited
2000
Widely distributed mutations in the COL2A1 gene produce achondrogenesis type II/hypochondrogenesis.
The COL2A1 gene was assayed for mutations in genomic DNA from 12 patients with achondrogenesis type II/hypochondrogenesis. The… 
1999
1999
Can transvaginal fetal biometry be considered a useful tool for early detection of skeletal dysplasias in high‐risk patients?
To evaluate the possibility of an early diagnosis of skeletal dysplasias in high‐risk patients. 
Highly Cited
1995
Highly Cited
1995
A COL2A1 Mutation in Achondrogenesis Type II Results in the Replacement of Type II Collagen by Type I and III Collagens in Cartilage (*)
An autosomal dominant mutation in the COL2A1 gene was identified in a fetus with achondrogenesis type II. A transition of G to A… 
Highly Cited
1994
Highly Cited
1994
A defect in the metabolic activation of sulfate in a patient with achondrogenesis type IB.
Achondrogenesis type I is a perinatally lethal, short-limb chondrodysplasia. Two types, IA and IB, have been distinguished by… 
Review
1992
Review
1992
Collagen, genes and the skeletal dysplasias on the edge of a new era: a review and update.
1987
1987
Achondrogenesis Type II, Abnormalities of Extracellular Matrix
ABSTRACT: Immune and lectin histochemical and microchemical methods were employed to study growth cartilage from seven cases of… 
Highly Cited
1986
Highly Cited
1986
Nonexpression of cartilage type II collagen in a case of Langer-Saldino achondrogenesis.
A lethal short-limbed dwarfism was diagnosed at autopsy as the Langer-Saldino variant of achondrogenesis by radiological… 
1985
1985
Cartilage collagen analysis in the chondrodystrophies.
1981
1981
In utero diagnosis of achondrogenesis, type I
A series of three infants with achondrogenesis, all born to the same mother, are reported. The third case was diagnosed in utero. 
Highly Cited
1978
Highly Cited
1978
Cartilage matrix deficiency (cmd): a new autosomal recessive lethal mutation in the mouse.
A new autosomal recessive lethal mutation in the mouse designated cartilage matrix deficiency (cmd) is described. Homozygotes are… 
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