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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

Semantic Scholar uses AI to extract papers important to this topic.
Highly Cited
2003
Highly Cited
2003
Use of three‐dimensional ultrasound imaging in the diagnosis of prenatal‐onset skeletal dysplasias
Recognition of prenatal‐onset skeletal dysplasias has improved with advances in ultrasound imaging. Skeletal abnormalities can be… 
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… 
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… 
1993
1993
Achondrogenesis type 2 diagnosed by transvaginal ultrasound at 12 weeks' gestation
Ultrasound examination at 12 weeks' gestation revealed severe generalised subcutaneous oedema in a pregnancy at risk for… 
1991
1991
Transvaginal ultrasound recognition of nuchal edema in the first‐trimester diagnosis of achondrogenesis
Achondrogenesis is a lethal autosomal-recessive skeletal dysplasia of which there are two histological types. Prenatal diagnosis… 
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… 
Review
1981
Review
1981
Achondrogenesis: a review with special consideration of achondrogenesis type II (Langer-Saldino).
We describe two dwarfed infants with large head, short neck and chest, prominent abdomen, and short limbs. Both died neonatally… 
Highly Cited
1971
Highly Cited
1971
Lethal short-limbed dwarfism: achondrogenesis and thanatophoric dwarfism.
Achondrogenesis is a lethal skeletal dysplasia in which micromelia is severe and delay in ossification is extreme.The… 
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