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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… 
National Institutes of Health

Related topics

Related topics

35 relations
AchondrogenesisAchondroplasia, Severe, With Developmental Delay And Acanthosis NigricansAutosomal dominant inheritanceBrachydactyly

Narrower (7)

Achondrogenesis type 1AAchondrogenesis type 2Achondrogenesis, type IB (disorder)Dyssegmental dysplasia, Rolland-Desbuquois type

Broader (2)

DwarfismHereditary Diseases

Papers overview

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Highly Cited
2004
Highly Cited
2004
Limb lengthening in achondroplasia by Ilizarov's method
SummaryIn achondroplasts limb lengthening can restore the normal proportion of the body. The Ilizarov method of limb lengthening… 
Highly Cited
2002
Highly Cited
2002
FGF receptors ubiquitylation: dependence on tyrosine kinase activity and role in downregulation
Review
1991
Review
1991
Leg lengthening: patient selection and management in achondroplasia.
Current concepts in limb lengthening in short stature are discussed together with management protocol and a review of 32 patients… 
Review
1991
Review
1991
Irreversible respiratory failure in an achondroplastic child: The importance of an early cervicomedullary decompression, and a review of the literature
Review
1988
Review
1988
The natural history of achondroplasia.
Achondroplasia is an important model for defining how to describe the natural history of a disorder, as well as how to use that… 
Highly Cited
1983
Highly Cited
1983
Germinal mosaicism in achondroplasia: a family with 3 affected siblings of normal parents
Three achondroplastic sisters born to normal parents are reported. This report constitutes an unique example of germinal… 
1982
1982
Unexpected Death of Children with Achondroplasia after the Perinatal Period
This report describes six cases of achondroplasia, four of whom died unexpectedly in early childhood. Clinical details and… 
1977
1977
Developmental abnormalities of the occipital bone in human chondrodystrophies (achondroplasia and thanatophoric dwarfism).
Specific developmental malformations have been demonstrated in the occipital bone of two chondrodysplastic disorders… 
1966
1966
Skin manifestations of Conradi's disease. Chondrodystrophia congenita punctata.
Chondrodystrophia congenita punctata (Conradi's disease) is a multisystem defect usually seen within the first six to nine months… 
1952
1952
THREE CASES OF ACHONDROPLASIA WITH NEUROLOGICAL COMPLICATIONS
The role played by congenital malformations of the skull and spine in the production of lesions of the central nervous system has… 
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