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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

Related topics

Related topics

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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.
2006
2006
PAR1 deletions downstream of SHOX are the most frequent defect in a Spanish cohort of Léri‐Weill dyschondrosteosis (LWD) probands
Léri‐Weill dyschondrosteosis (LWD) is a skeletal dysplasia characterized by disproportionate short stature and Madelung deformity… 
Highly Cited
2005
Highly Cited
2005
The phenotype of short stature homeobox gene (SHOX) deficiency in childhood: contrasting children with Leri-Weill dyschondrosteosis and Turner syndrome.
Highly Cited
1996
Highly Cited
1996
Hemoglobin level is linked to growth hormone-dependent proteins in short children.
Erythropoiesis was investigated in 32 children wih short stature and in eight children with skeletal dysplasia by studying blood… 
Highly Cited
1996
Highly Cited
1996
Hypercalcemia due to constitutive activity of the parathyroid hormone (PTH)/PTH-related peptide receptor: comparison with primary hyperparathyroidism.
In Jansen's disease (JD), the hypercalcemia found in about half the cases is the result of a mutant, constitutively overactive… 
Review
1993
Review
1993
Hydrops-ectopic calcification-moth-eaten skeletal dysplasia (Greenberg dysplasia): prenatal diagnosis and further delineation of a rare genetic disorder.
An offspring of consanguineous parents of East-Indian origin was found prenatally to have hydrops fetalis, short limb dwarfism… 
1992
1992
Congenital hypothalamic hamartoma syndrome: nosological discussion and minimum diagnostic criteria of a possibly familial form.
We report on congenital hypothalamic hamartomas, discovered at autopsy in 3 unrelated fetuses. In the first 2 patients, the tumor… 
1992
1992
The use of the Ilizarov technique in the correction of limb deformities associated with skeletal dysplasia.
Summary The skeletal dysplasias are a unique and heterogeneous group of disorders with skeletal manifestations including… 
Review
1991
Review
1991
A chromosome 17q de novo paracentric inversion in a patient with campomelic dysplasia; case report and etiologic hypothesis
The campomelic syndrome is a skeletal dysplasia with a characteristic pattern of deformity involving the proximal and distal… 
1990
1990
The Lungs and Airways in Achondroplasia: Do Little People Have Little Lungs?
Achondroplasia is a unique model of the effects of skeletal dysplasia and dwarfism on the respiratory system. We measured chest… 
Highly Cited
1962
Highly Cited
1962
Generalized skeletal dysplasia with multiple anomalies. A note on Pyle's disease.
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