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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.
Review
2004
Review
2004
The infant skull: a vault of information.
The art of interpreting skull radiographs is slowly being lost as trainees in radiology see fewer plain radiographs and depend… 
Highly Cited
2001
Highly Cited
2001
Loss of heterozygosity at 4p16.3 and mutation of FGFR3 in transitional cell carcinoma
4p16.3 has previously been identified as a region of non-random LOH in transitional cell carcinoma, suggesting the presence of a… 
Review
2001
Review
2001
Fetal Biometry: Clinical, Pathological, and Technical Considerations
Sonographic measurements of fetal ultrasound parameters are the basis for accurate determination of gestational age and detection… 
Review
1998
Review
1998
Distraction Osteogenesis of the Lower Extremity with Use of Monolateral External Fixation. A Study of Two Hundred and Sixty-one Femora and Tibiae*
We reviewed the results of distraction osteogenesis of 114 femora and 147 tibiae that had been lengthened to treat a variety of… 
Highly Cited
1998
Highly Cited
1998
Constitutive activation of fibroblast growth factor receptor 3 by mutations responsible for the lethal skeletal dysplasia thanatophoric dysplasia type I.
Thanatophoric dysplasia type I (TDI) is a neonatal lethal skeletal dysplasia caused by several mutations in the extracellular… 
Highly Cited
1996
Highly Cited
1996
Missense FGFR3 mutations create cysteine residues in thanatophoric dwarfism type I (TD1).
Thanatophoric dwarfism (TD) is a sporadic lethal skeletal dysplasia with micromelic shortening of the limbs, macrocephaly… 
Highly Cited
1993
Highly Cited
1993
Standards for ovarian volume in childhood and puberty.
Highly Cited
1993
Highly Cited
1993
Cartilage-hair hypoplasia gene assigned to chromosome 9 by linkage analysis
Cartilage-hair hypoplasia (CHH) is an autosomal recessive skeletal dysplasia of unknown pathogenesis leading to short-limbed… 
Highly Cited
1980
Highly Cited
1980
Ultrasound measurement of fetal limb bones.
Highly Cited
1971
Highly Cited
1971
Larsen's syndrome: a skeletal dysplasia with multiple joint dislocations and unusual facies.
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