The Experts below are selected from a list of 435 Experts worldwide ranked by ideXlab platform
Outi Mäkitie - One of the best experts on this subject based on the ideXlab platform.
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Hajdu Cheney Syndrome with severe dural ectasia
American Journal of Medical Genetics Part A, 2011Co-Authors: Kristiina Avela, Leena Valanne, Ilkka Helenius, Outi MäkitieAbstract:Hajdu–Cheney Syndrome (HCS) is an autosomal dominant condition comprising osteolysis of the terminal phalanges, characteristic craniofacial abnormalities, dental anomalies, and proportionate short stature. The clinical and radiological findings develop and progress with age. Here, we report on a HCS patient with severe scoliosis and exceptionally massive dural ectasia. Congenital scoliosis and dural ectasia have not been reported previously in HCS. © 2011 Wiley-Liss, Inc.
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Hajdu-Cheney Syndrome with severe dural ectasia.
American journal of medical genetics. Part A, 2011Co-Authors: Kristiina Avela, Leena Valanne, Ilkka Helenius, Outi MäkitieAbstract:Hajdu-Cheney Syndrome (HCS) is an autosomal dominant condition comprising osteolysis of the terminal phalanges, characteristic craniofacial abnormalities, dental anomalies, and proportionate short stature. The clinical and radiological findings develop and progress with age. Here, we report on a HCS patient with severe scoliosis and exceptionally massive dural ectasia. Congenital scoliosis and dural ectasia have not been reported previously in HCS.
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Hajdu–Cheney Syndrome with severe dural ectasia
American Journal of Medical Genetics Part A, 2011Co-Authors: Kristiina Avela, Leena Valanne, Ilkka Helenius, Outi MäkitieAbstract:Hajdu–Cheney Syndrome (HCS) is an autosomal dominant condition comprising osteolysis of the terminal phalanges, characteristic craniofacial abnormalities, dental anomalies, and proportionate short stature. The clinical and radiological findings develop and progress with age. Here, we report on a HCS patient with severe scoliosis and exceptionally massive dural ectasia. Congenital scoliosis and dural ectasia have not been reported previously in HCS. © 2011 Wiley-Liss, Inc.
Melita Irving - One of the best experts on this subject based on the ideXlab platform.
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phenotypic presentations of Hajdu Cheney Syndrome according to age 5 distinct clinical presentations
European Journal of Medical Genetics, 2020Co-Authors: Lise Graversen, Melita Irving, Mette Møller Handrup, Hanne Hove, Birgitte Rode Diness, Lotte Risom, Dea Svaneby, Mads Malik Aagaard, Ida Vogel, Hans GjørupAbstract:Abstract We present five Danish individuals with Hajdu-Cheney Syndrome (HJCYS) (OMIM # 102500 ), a rare multisystem skeletal disorder with distinctive facies, generalised osteoporosis and progressive focal bone destruction. In four cases positive genetic screening of exon 34 of NOTCH2 supported the clinical diagnosis; in one of these cases, mosaicism was demonstrated, which, to our knowledge, has not previously been reported. In one case no genetic testing was performed since the phenotype was definite, and the diagnosis in the mother was genetically confirmed. The age of the patients differs widely from ten to 57 years, allowing a natural history description of the phenotype associated with this ultra-rare condition. The evolution of the condition is most apparent in the incremental bone loss leading to osteoporosis and the acro-osteolysis, both of which contribute significantly to disease burden.
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Phenotypic presentations of Hajdu-Cheney Syndrome according to age – 5 distinct clinical presentations
European journal of medical genetics, 2019Co-Authors: Lise Graversen, Melita Irving, Mette Møller Handrup, Hanne Hove, Birgitte Rode Diness, Lotte Risom, Dea Svaneby, Mads Malik Aagaard, Ida Vogel, Hans GjørupAbstract:Abstract We present five Danish individuals with Hajdu-Cheney Syndrome (HJCYS) (OMIM # 102500 ), a rare multisystem skeletal disorder with distinctive facies, generalised osteoporosis and progressive focal bone destruction. In four cases positive genetic screening of exon 34 of NOTCH2 supported the clinical diagnosis; in one of these cases, mosaicism was demonstrated, which, to our knowledge, has not previously been reported. In one case no genetic testing was performed since the phenotype was definite, and the diagnosis in the mother was genetically confirmed. The age of the patients differs widely from ten to 57 years, allowing a natural history description of the phenotype associated with this ultra-rare condition. The evolution of the condition is most apparent in the incremental bone loss leading to osteoporosis and the acro-osteolysis, both of which contribute significantly to disease burden.
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Bisphosphonate therapy for spinal osteoporosis in Hajdu-Cheney Syndrome - new data and literature review.
Orphanet journal of rare diseases, 2018Co-Authors: James Pittaway, Christopher Harrison, Yumie Rhee, Muriel Holder-espinasse, Alan Fryer, Tim Cundy, William Drake, Melita IrvingAbstract:Hajdu-Cheney Syndrome (HCS) (#OMIM 102500) is a rare, autosomal dominant condition that presents in early childhood. It is caused by mutations in the terminal exon of NOTCH2, which encodes the transmembrane NOTCH2 receptor. This pathway is involved in the coupled processes of bone formation and resorption. The skeletal features of HCS include acro-osteolysis of the digits and osteoporosis commonly affecting vertebrae and long bones. Fractures are a prominent feature and are associated with significant morbidity. There is no specific treatment, but with both acro-osteolysis and generalized osteoporosis, it is possible that anti-resorptive treatment might be of benefit. However, to date only a few case reports have evaluated the effectiveness of bisphosphonate treatment. We describe the clinical features, treatment regimens and response to bisphosphonate treatment in 7 newly described patients aged 6–39 with HCS, and pooled the data with that from 8 previously published cases (a total of 17 courses of treatment in 15 individuals). The mean lumbar spine bone mineral density (BMD) z-score before treatment was − 2.9 (SD 1.2). In 14 courses of treatment (82%), there was an increase in BMD with bisphosphonate treatment, but the impact (in terms of change in spinal BMD z-score) appeared to be less with advancing age (p = 0.01). There was no evidence that acro-osteolysis was prevented. Although individual response is variable and age-related, the data support a role for bisphosphonates in preventing or treating spinal osteoporosis in HCS, but bone loss from the lumbar spine may be rapid after cessation.
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End-Stage Renal Disease in an Infant With Hajdu-Cheney Syndrome.
Therapeutic apheresis and dialysis : official peer-reviewed journal of the International Society for Apheresis the Japanese Society for Apheresis the , 2016Co-Authors: Nina Battelino, Melita Irving, Karin Writzl, Nevenka Bratanič, Gregor NovljanAbstract:Hajdu-Cheney Syndrome (HJCYS) is a rare, autosomal dominant, skeletal disorder caused by mutations in the NOTCH2 signaling pathway for which genetic testing has recently become available. Renal abnormalities are associated in at least 10% of cases. We present an 8-year-old Caucasian boy, born with multiple dysmorphic features consistent with HJCYS. Imaging of the urinary tract revealed bilateral cystic dysplastic kidneys with associated vesicoureteral reflux. Renal function has been impaired since birth and deteriorated progressively to end-stage renal disease (ESRD) by the age of two and a half years, when peritoneal dialysis was initiated and only recently renal transplantation was performed. Additional congenital abnormalities and multisystem involvement in HJCYS further complicated management, and he developed refractory anemia. Molecular diagnosis was confirmed by identification of a truncating mutation in exon 34 of NOTCH2. Although, renal abnormalities are considered an integral part of the HJCYS, published reports on ESRD are scarce. In those few published cases, where ESRD was recognized, renal failure developed either in late adolescence or adulthood. This is the first report of early ESRD occurring in a child. Patients with HJCYS may need chronic renal replacement therapy even in early childhood. The management of these children can be challenging given the multisystemic manifestations of HJCYS.
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serpentine fibula polycystic kidney Syndrome is part of the phenotypic spectrum of Hajdu Cheney Syndrome
European Journal of Human Genetics, 2012Co-Authors: Mary J Gray, Melita Irving, Michael A Simpson, Debora Romeo Bertola, Paula Ricci Arantes, Helen Stewart, Stephen P RobertsonAbstract:Serpentine fibula polycystic kidney Syndrome (SFPKS; MIM600330) is a rare skeletal dysplasia that has polycystic kidneys and dysmorphic facies as additional defining phenotypic components. The nosological classification of this disease has been debated as the condition shares features common to other skeletal dysplasias such as Melnick Needles Syndrome (MNS; MIM309350) and Hajdu–Cheney Syndrome (HCS; MIM102500). Here, two previously reported cases of SFPKS are presented with emphasis on their phenotypic evolution. With the recent discovery that HCS is caused by mutations in NOTCH2, DNA from the both cases was examined and both were found to have truncating mutations in exon 34 of NOTCH2. The phenotypic evolution of SFPKS and this molecular analysis strongly suggest that SFPKS is part of the phenotypic spectrum of HCS and should no longer be classified as a distinct disease entity.
Kristiina Avela - One of the best experts on this subject based on the ideXlab platform.
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Hajdu Cheney Syndrome with severe dural ectasia
American Journal of Medical Genetics Part A, 2011Co-Authors: Kristiina Avela, Leena Valanne, Ilkka Helenius, Outi MäkitieAbstract:Hajdu–Cheney Syndrome (HCS) is an autosomal dominant condition comprising osteolysis of the terminal phalanges, characteristic craniofacial abnormalities, dental anomalies, and proportionate short stature. The clinical and radiological findings develop and progress with age. Here, we report on a HCS patient with severe scoliosis and exceptionally massive dural ectasia. Congenital scoliosis and dural ectasia have not been reported previously in HCS. © 2011 Wiley-Liss, Inc.
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Hajdu-Cheney Syndrome with severe dural ectasia.
American journal of medical genetics. Part A, 2011Co-Authors: Kristiina Avela, Leena Valanne, Ilkka Helenius, Outi MäkitieAbstract:Hajdu-Cheney Syndrome (HCS) is an autosomal dominant condition comprising osteolysis of the terminal phalanges, characteristic craniofacial abnormalities, dental anomalies, and proportionate short stature. The clinical and radiological findings develop and progress with age. Here, we report on a HCS patient with severe scoliosis and exceptionally massive dural ectasia. Congenital scoliosis and dural ectasia have not been reported previously in HCS.
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Hajdu–Cheney Syndrome with severe dural ectasia
American Journal of Medical Genetics Part A, 2011Co-Authors: Kristiina Avela, Leena Valanne, Ilkka Helenius, Outi MäkitieAbstract:Hajdu–Cheney Syndrome (HCS) is an autosomal dominant condition comprising osteolysis of the terminal phalanges, characteristic craniofacial abnormalities, dental anomalies, and proportionate short stature. The clinical and radiological findings develop and progress with age. Here, we report on a HCS patient with severe scoliosis and exceptionally massive dural ectasia. Congenital scoliosis and dural ectasia have not been reported previously in HCS. © 2011 Wiley-Liss, Inc.
Stephen P Robertson - One of the best experts on this subject based on the ideXlab platform.
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serpentine fibula polycystic kidney Syndrome is part of the phenotypic spectrum of Hajdu Cheney Syndrome
European Journal of Human Genetics, 2012Co-Authors: Mary J Gray, Melita Irving, Michael A Simpson, Debora Romeo Bertola, Paula Ricci Arantes, Helen Stewart, Stephen P RobertsonAbstract:Serpentine fibula polycystic kidney Syndrome (SFPKS; MIM600330) is a rare skeletal dysplasia that has polycystic kidneys and dysmorphic facies as additional defining phenotypic components. The nosological classification of this disease has been debated as the condition shares features common to other skeletal dysplasias such as Melnick Needles Syndrome (MNS; MIM309350) and Hajdu–Cheney Syndrome (HCS; MIM102500). Here, two previously reported cases of SFPKS are presented with emphasis on their phenotypic evolution. With the recent discovery that HCS is caused by mutations in NOTCH2, DNA from the both cases was examined and both were found to have truncating mutations in exon 34 of NOTCH2. The phenotypic evolution of SFPKS and this molecular analysis strongly suggest that SFPKS is part of the phenotypic spectrum of HCS and should no longer be classified as a distinct disease entity.
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Serpentine fibula polycystic kidney Syndrome is part of the phenotypic spectrum of Hajdu–Cheney Syndrome
European Journal of Human Genetics, 2012Co-Authors: Mary J Gray, Michael A Simpson, Melita D Irving, Debora Romeo Bertola, Paula Ricci Arantes, Helen Stewart, Chong Ae Kim, Stephen P RobertsonAbstract:Serpentine fibula polycystic kidney Syndrome (SFPKS; MIM600330) is a rare skeletal dysplasia that has polycystic kidneys and dysmorphic facies as additional defining phenotypic components. The nosological classification of this disease has been debated as the condition shares features common to other skeletal dysplasias such as Melnick Needles Syndrome (MNS; MIM309350) and Hajdu–Cheney Syndrome (HCS; MIM102500). Here, two previously reported cases of SFPKS are presented with emphasis on their phenotypic evolution. With the recent discovery that HCS is caused by mutations in NOTCH2 , DNA from the both cases was examined and both were found to have truncating mutations in exon 34 of NOTCH2 . The phenotypic evolution of SFPKS and this molecular analysis strongly suggest that SFPKS is part of the phenotypic spectrum of HCS and should no longer be classified as a distinct disease entity.
Louw Feenstra - One of the best experts on this subject based on the ideXlab platform.
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vocal cord paralysis and cystic kidney disease in Hajdu Cheney Syndrome
Clinical Genetics, 2008Co-Authors: J P Fryns, C I C Stinckens, Louw FeenstraAbstract:In this report we describe the clinical history and symptoms in a 36-year-old male with Hajdu-Cheney Syndrome, an autosomal dominant condition with dissolution of the terminal phalanges (acro-osteolysis), characteristic craniofacial dysmorphism, and musculoskeletal alterations. He was admitted at that age because of progressive respiratory problems, with Cheyne-Stokes respiration and bilateral vocal cord paralysis. Terminal renal failure with cystic renal disease was diagnosed at the age of 14 years. The findings in the present patient illustrate the risk of progressive neurologic degeneration with involvement of the cranial nerves in patients with Hajdu-Cheney Syndrome. Moreover, we confirm that cystic renal changes are an integral part of Hajdu-Cheney Syndrome, and agree that Hajdu-Cheney Syndrome and Serpentine fibula Syndrome are probably variant examples of the same disease.
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Vocal cord paralysis and cystic kidney disease in Hajdu‐Cheney Syndrome
Clinical genetics, 2008Co-Authors: J P Fryns, C I C Stinckens, Louw FeenstraAbstract:In this report we describe the clinical history and symptoms in a 36-year-old male with Hajdu-Cheney Syndrome, an autosomal dominant condition with dissolution of the terminal phalanges (acro-osteolysis), characteristic craniofacial dysmorphism, and musculoskeletal alterations. He was admitted at that age because of progressive respiratory problems, with Cheyne-Stokes respiration and bilateral vocal cord paralysis. Terminal renal failure with cystic renal disease was diagnosed at the age of 14 years. The findings in the present patient illustrate the risk of progressive neurologic degeneration with involvement of the cranial nerves in patients with Hajdu-Cheney Syndrome. Moreover, we confirm that cystic renal changes are an integral part of Hajdu-Cheney Syndrome, and agree that Hajdu-Cheney Syndrome and Serpentine fibula Syndrome are probably variant examples of the same disease.
