Hajdu-Cheney Syndrome (Multicentric Osteolysis)

03/01/2013 - "It is debatable whether Hajdu-Cheney syndrome (HCS) and serpentine fibula-polycystic kidney syndrome (SFPKS) represent a single clinical entity with a variable degree of expression or two different entities, because both disorders share common clinical and radiological manifestations, including similar craniofacial characteristics, and defective bone mineralization. "
03/01/2013 - "Clinical consequences in truncating mutations in exon 34 of NOTCH2: report of six patients with Hajdu-Cheney syndrome and a patient with serpentine fibula polycystic kidney syndrome."
01/01/2012 - "Serpentine fibula polycystic kidney syndrome is part of the phenotypic spectrum of Hajdu-Cheney syndrome."
01/01/2009 - "This association of anomalies is referred to as serpentine fibula polycystic kidney syndrome (SFPKS) and is currently interpreted as a manifestation of Hajdu-Cheney syndrome (HCS). "
01/01/2007 - "The individual with serpentine fibula-polycystic kidney syndrome, the fifth case reported in the literature, exhibited wormian bones which further expands the phenotypic spectrum for this condition and extends the overlap with Hajdu-Cheney syndrome. "

12/01/2013 - "The 'vanishing bone' syndrome multicentric osteolysis with nodulosis and arthropathy (MONA) is a rare chronic skeleton disorder caused by matrix metalloproteinase 2 (MMP2) deficiency, mimicking erosive polyarticular juvenile idiopathic arthritis. "
07/01/2001 - "Mutation of the matrix metalloproteinase 2 gene (MMP2) causes a multicentric osteolysis and arthritis syndrome."
03/01/2013 - "Multicentric osteolysis with arthropathy (MOA; MIM 605156) is an inherited osteolyses and arthritis syndrome resulting from loss of matrix metalloproteinase 2 (MMP-2). "
05/01/2009 - "A novel matrix metalloproteinase 2 (MMP2) terminal hemopexin domain mutation in a family with multicentric osteolysis with nodulosis and arthritis with cardiac defects."
04/01/2007 - "We conclude that pamidronate does not improve peripheral osteolysis in multicentric osteolysis and nodular arthropathy caused by mutation in matrix metalloproteinase 2 gene."

03/01/2011 - "Winchester syndrome (WS) is a rare autosomal recessive syndrome resulting in multicentric osteolysis. "
01/01/2011 - "The third patient was phenotypically and genotypically compatible with Winchester syndrome resulting in multicentric osteolysis (autosomal recessive). "
11/01/2010 - "Torg-Winchester syndrome (OMIM 259600) is an autosomal recessive multicentric osteolysis disorder. "
09/07/2012 - "Mutation of membrane type-1 metalloproteinase, MT1-MMP, causes the multicentric osteolysis and arthritis disease Winchester syndrome."

02/01/2015 - "Lateral meningocele syndrome has phenotypic overlap with Hajdu-Cheney syndrome. "
07/01/2011 - "Lateral meningocele syndrome and Hajdu-Cheney syndrome: different disorders with overlapping phenotypes."

09/01/2012 - "Two-year cyclic infusion of pamidronate improves bone mass density and eliminates risk of fractures in a girl with osteoporosis due to Hajdu-Cheney syndrome."
04/01/2007 - "We conclude that pamidronate does not improve peripheral osteolysis in multicentric osteolysis and nodular arthropathy caused by mutation in matrix metalloproteinase 2 gene."

09/07/2012 - "Mutation of membrane type-1 metalloproteinase, MT1-MMP, causes the multicentric osteolysis and arthritis disease Winchester syndrome."

04/01/2011 - "The Hajdu-Cheney syndrome mutations are predicted to lead to the premature truncation of NOTCH2 with either disruption or loss of the C-terminal proline-glutamate-serine-threonine-rich proteolytic recognition sequence, the absence of which has previously been shown to increase Notch signaling."

04/01/2011 - "The Hajdu-Cheney syndrome mutations are predicted to lead to the premature truncation of NOTCH2 with either disruption or loss of the C-terminal proline-glutamate-serine-threonine-rich proteolytic recognition sequence, the absence of which has previously been shown to increase Notch signaling."

07/01/2000 - "He had typical physical and radiographic features of Hajdu-Cheney syndrome associated with growth hormone (GH) deficiency and peripheral motor neuropathy. "
07/01/2000 - "Hajdu-Cheney syndrome with growth hormone deficiency and neuropathy."

04/01/2011 - "The Hajdu-Cheney syndrome mutations are predicted to lead to the premature truncation of NOTCH2 with either disruption or loss of the C-terminal proline-glutamate-serine-threonine-rich proteolytic recognition sequence, the absence of which has previously been shown to increase Notch signaling."

04/01/1984 - "Hajdu-Cheney syndrome: rehabilitation after decompression of cervical spinal cord compromise."
12/01/2013 - "We report here a 10-year-old girl with Hajdu-Cheney syndrome who developed progressive basilar impression and medullary compression for which foramen magnum decompression was performed. "

12/01/2013 - "A case report of anesthesia for a child with Hajdu-Cheney syndrome."
06/01/2009 - "Anesthesia for a child with Hajdu-Cheney syndrome."

01/01/1987 - "Multicentric osteolysis: report of the second successful renal transplant."

02/01/2003 - "This article describes the fixed prosthodontic rehabilitation of a 53-year-old male patient with multicentric osteolysis. "

01/01/2003 - "Proximal translation of the radius following arthroplasty of the distal radioulnar joint in Hajdu-Cheney syndrome."