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Hajdu-Cheney syndrome

Serpentine fibula polycystic kidney syndromeArthrodentoosteodysplasiaFamilial osteodysplasiaAcrodentoosteodysplasiaAcroosteolysis with osteoporosis and changes in skull and mandible
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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:
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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 20 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 ...

A 23-year follow-up of a male with Hajdu-Cheney syndrome due to NOTCH2 mutation.
Last Updated: Sep 25, 2019

We present a natural history of a 32-year-old man with Hajdu-Cheney syndrome (HJCYS), because of the de novo truncating mutation in the exon 34 of NOTCH2 (c.6424-6427delTCTG, p.Ser2142ArgfsX4), who has been followed up for a period of 23 years (between 9 and 32 years). During ...

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20 Free Research Articles 70 Research Articles