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Hajdu-Cheney syndrome

Serpentine fibula polycystic kidney syndromeAcrodentoosteodysplasiaAcroosteolysis with osteoporosis and changes in skull and mandibleArthrodentoosteodysplasiaFamilial osteodysplasia
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Review Articles from PubMed

Review articles summarize what is currently known about a disease. They discuss research previously published by others. The terms "Hajdu-Cheney syndrome" returned 5 free, full-text review articles. First few results:
Bisphosphonate therapy for spinal osteoporosis in Hajdu-Cheney syndrome - new data and literature review.
Last Updated: Mar 14, 2019

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 ...

Dental implications in Hajdu-Cheney syndrome: A novel case report and review of the literature.
Last Updated: Dec 21, 2018

To identify the molecular genetic etiology of an individual with a dysmorphic face, unusual teeth mobility, and root resorption.

Extreme proximal junctional kyphosis-a complication of delayed lambdoid suture closure in Hajdu-Cheney syndrome: a case report and literature review.
Last Updated: Mar 20, 2019

To describe the manifestations, surgical treatment, and potential complications of Hajdu-Cheney syndrome (HCS), and the management of these complications.

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5 Free Review Articles 17 Review Articles

Editorials from PubMed

Editorial articles describe the outcome of a single study. They are the published results of original research. The terms "Hajdu-Cheney syndrome" returned 0 free, full-text editorial articles. First 0 results:
No publications were found for this category.
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Research Articles from PubMed

Research articles describe the outcome of a single study. They are the published results of original research. The terms "Hajdu-Cheney syndrome" returned 18 free, full-text research articles. First few results:
The Age Dependent Progression of Hajdu-Cheney Syndrome in Two Families.
Last Updated: Apr 19, 2019

Hajdu-Cheney syndrome (HCS) is a rare multi-system disease with autosomal dominant inheritance and skeletal involvement, resulting mostly in craniofacial dysmorphy with mid-face hypoplasia, dental anomalies, short stature, scoliosis, shortening of the digits and nail beds, acro-osteolysis ...

Phenotype variability in Hajdu-Cheney syndrome.
Last Updated: Mar 05, 2019

Hajdu Cheney syndrome is a rare autosomal dominant skeletal dysplasia, with multi-organ involvement, caused by pathogenic variants in NOTCH2. It is characterized by progressive focal bone destruction, including acro-osteolysis and generalized osteoporosis, craniofacial anomalies, ...

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18 Free Research Articles 66 Research Articles