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Congenital hypoplasia of clavicle

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

Related topics

Related topics

12 relations
BENT BONE DYSPLASIA SYNDROMECDAGS SYNDROMECleidocranial DysplasiaMANDIBULOACRAL DYSPLASIA WITH TYPE B LIPODYSTROPHY
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Papers overview

Semantic Scholar uses AI to extract papers important to this topic.
Highly Cited
2007
Highly Cited
2007
Compound heterozygosity for mutations in LMNA in a patient with a myopathic and lipodystrophic mandibuloacral dysplasia type A phenotype.
CONTEXT Mandibuloacral dysplasia type A (MADA; OMIM 248370) is a rare progeroid syndrome characterized by dysmorphic craniofacial… Expand
Highly Cited
2005
Highly Cited
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… Expand
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Review
2005
Review
2005
A novel homozygous Ala529Val LMNA mutation in Turkish patients with mandibuloacral dysplasia.
CONTEXT Mandibuloacral dysplasia (MAD) is a phenotypically heterogeneous, rare autosomal recessive disorder characterized by… Expand
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… Expand
Highly Cited
2003
Highly Cited
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… Expand
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Highly Cited
2002
Highly Cited
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… Expand
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Highly Cited
2002
Highly Cited
2002
Body fat distribution and metabolic derangements in patients with familial partial lipodystrophy associated with mandibuloacral dysplasia.
  • V. Simha, A. Garg
  • The Journal of clinical endocrinology and…
  • 2002
    • Corpus ID: 18198932
Mandibuloacral dysplasia (MAD) is a rare autosomal recessive disorder that is characterized by mandibular and clavicular… Expand
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1996
1996
Mandibular reconstruction in a patient with pyknodysostosis.
Pyknodysostosis is a rare skeletal disease considered to be a variant of osteopetrosis. Clinical features of pyknodysostosis… Expand
Highly Cited
1992
Highly Cited
1992
Apparent cleidocranial dysplasia associated with abnormalities of 8q22 in three individuals.
Cleidocranial dysplasia is an autosomal dominant, generalised skeletal disorder characterised by variable clavicular hypoplasia… Expand
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… Expand
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