Hajdu-Cheney Syndrome

Known as: Arthrodentoosteodysplasias, Hajdu-Cheney Syndrome [Disease/Finding], Multicentric Osteolysis 
A very rare inherited connective tissue disorder characterized by osteoporosis, skull deformities, short stature, and bone flexibility.
National Institutes of Health

Papers overview

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Highly Cited
2011
Highly Cited
2011
We used an exome-sequencing strategy and identified an allelic series of NOTCH2 mutations in Hajdu-Cheney syndrome, an autosomal… (More)
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2011
2011
Hajdu-Cheney syndrome (HCS) is an autosomal dominant condition comprising osteolysis of the terminal phalanges, characteristic… (More)
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2011
2011
Hajdu-Cheney syndrome (HCS) is a rare genetic disorder whose hallmark is acro-osteolysis, shortening of terminal phalanges, and… (More)
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2007
2007
BACKGROUND Hajdu-Cheney syndrome (HCS) is an inheritable, rare disorder of bone metabolism, associated with acro-osteolysis of… (More)
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2007
2007
Hajdu-Cheney syndrome is a rare disorder characterized by short stature, joint hypermobility, distinctive craniofacial and skull… (More)
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Review
2001
Review
2001
Hajdu-Cheney syndrome is a rare, autosomal dominant disorder comprising acroosteolysis of the distal phalanges with associated… (More)
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1994
1994
Hajdu-Cheney syndrome is a rare disorder that can affect many parts of the body, particularly the bones. Loss of bone tissue from… (More)
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1991
1991
We desribe a patient with the typical features of Hajdu-Cheney Syndrome. The previously undescribed cranial computerised… (More)
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1991
1991
Hajdu-Cheney syndrome is a rare congenital disease with acro-osteolysis, osteoporotic changes of the spine and long bones of… (More)
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1978
1978
A mother and son with acro-osteolysis (Hajdu-Cheney syndrome) are described. In addition to osteolysis of the distal phalanges… (More)
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