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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

50 relations

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
2007
Highly Cited
2007
Case series: Combined spinal epidural anesthesia for Cesarean delivery andex utero intrapartum treatment procedure
PurposeTo report the use of regional anesthesia andiv nitroglycerin to provide anesthesia and uterine relaxation for three… 
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.
Review
2005
Review
2005
Knee Reconstruction in Syndromes With Congenital Absence of the Anterior Cruciate Ligament
The authors review their experience with four patients with congenital deficiency of the anterior cruciate ligament (ACL) who… 
Highly Cited
2003
Highly Cited
2003
Autosomal recessive HEM/Greenberg skeletal dysplasia is caused by 3 beta-hydroxysterol delta 14-reductase deficiency due to mutations in the lamin B receptor gene.
Hydrops-ectopic calcification-"moth-eaten" (HEM) or Greenberg skeletal dysplasia is an autosomal recessive chondrodystrophy with… 
Highly Cited
2001
Highly Cited
2001
Analysis of short stature homeobox-containing gene (SHOX) and auxological phenotype in dyschondrosteosis and isolated Madelung deformity
Abstract. Dyschondrosteosis (DCO; also called Léri-Weill syndrome) is a skeletal dysplasia characterised by disproportionate… 
Highly Cited
1998
Highly Cited
1998
Two mutations within a feline mucopolysaccharidosis type VI colony cause three different clinical phenotypes.
Mucopolysaccharidosis type VI (MPS VI) is a lysosomal storage disease caused by a deficiency of N-acetylgalactosamine-4-sulfatase… 
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
1982
Highly Cited
1982
Diagnosis of fetal skeletal dysplasias with ultrasound.
Highly Cited
1967
Highly Cited
1967
The oto-palato-digital syndrome. A new symptom-complex consisting of deafness, dwarfism, cleft palate, characteristic facies, and a generalized bone dysplasia.
TAYBI, in 1962, reported a case of "generalized skeletal dysplasia with multiple anomalies," suggesting that this possibly… 
Highly Cited
1962
Highly Cited
1962
Generalized skeletal dysplasia with multiple anomalies. A note on Pyle's disease.
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