FAQ

Congenital hypoplasia of clavicle

Known as: Short clavicles, Hypoplasia of clavicle, Underdeveloped clavicles 
Reduced length of the clavicles. [HPO:probinson]
National Institutes of Health

Topic mentions per year

Topic mentions per year

1970-2016
024619702016

Related topics

Related topics

10 relations
BENT BONE DYSPLASIA SYNDROMECleidocranial DysplasiaMANDIBULOACRAL DYSPLASIA WITH TYPE B LIPODYSTROPHYMalouf syndrome
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Related mentions per year

Related mentions per year

1946-2018
19401960198020002020
Congenital hypoplasia of clavicle
Cleidocranial Dysplasia
Pycnodysostosis
Ulnar-mammary syndrome
Mandibuloacral dysostosis
underdevelopment

Papers overview

Semantic Scholar uses AI to extract papers important to this topic.
Highly Cited
2010
Highly Cited
2010
The p38 MAPK pathway is essential for skeletogenesis and bone homeostasis in mice.
Nearly every extracellular ligand that has been found to play a role in regulating bone biology acts, at least in part, through… (More)
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2008
2008
Severe mandibuloacral dysplasia-associated lipodystrophy and progeria in a young girl with a novel homozygous Arg527Cys LMNA mutation.
CONTEXT Mandibuloacral dysplasia (MAD) is a rare autosomal recessive progeroid syndrome due to mutations in genes encoding… (More)
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2005
2005
Myf5 −/− :MyoD −/− amyogenic fetuses reveal the importance of early contraction and static loading by striated muscle in mouse skeletogenesis
The mechanical loading of striated muscle is thought to play an important role in shaping bones and joints. Here, we examine… (More)
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2005
2005
Dysregulation of chondrogenesis in human cleidocranial dysplasia.
Cleidocranial dysplasia (CCD) is an autosomal dominant skeletal dysplasia caused by heterozygosity of mutations in human RUNX2… (More)
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2003
2003
Genetic and phenotypic heterogeneity in patients with mandibuloacral dysplasia-associated lipodystrophy.
Mandibuloacral dysplasia (MAD) is a phenotypically heterogeneous, rare autosomal recessive disorder characterized by mandibular… (More)
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2003
2003
Functional analysis of RUNX2 mutations in cleidocranial dysplasia: novel insights into genotype-phenotype correlations.
Cleidocranial dysplasia (CCD) is an inherited autosomal-dominant skeletal disease caused by heterozygous mutations in the… (More)
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2002
2002
Functional analysis of RUNX2 mutations in Japanese patients with cleidocranial dysplasia demonstrates novel genotype-phenotype correlations.
Cleidocranial dysplasia (CCD) is an autosomal dominant heritable skeletal disease caused by heterozygous mutations in the… (More)
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2002
2002
Effects of plate location and selection on the stability of midshaft clavicle osteotomies: a biomechanical study.
Operative fixation of midshaft clavicle fractures is controversial with few biomechanical data to assist surgical decision making… (More)
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2002
2002
Body fat distribution and metabolic derangements in patients with familial partial lipodystrophy associated with mandibuloacral dysplasia.
Mandibuloacral dysplasia (MAD) is a rare autosomal recessive disorder that is characterized by mandibular and clavicular… (More)
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1987
1987
Animal model: skeletal anomalies in mice with cleidocranial dysplasia.
Cleidocranial dysplasia in mice, a radiation-induced skeletal mutation, showed striking homology with cleidocranial dysplasia in… (More)
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