The Age Dependent Progression of Hajdu-Cheney Syndrome in Two Families
The result's identifiers
Result code in IS VaVaI
<a href="https://www.isvavai.cz/riv?ss=detail&h=RIV%2F00216208%3A11110%2F18%3A10392392" target="_blank" >RIV/00216208:11110/18:10392392 - isvavai.cz</a>
Alternative codes found
RIV/65269705:_____/18:00070510 RIV/00064165:_____/18:10392392
Result on the web
<a href="https://pmr.lf1.cuni.cz/media/pdf/pmr_2018119040156.pdf" target="_blank" >https://pmr.lf1.cuni.cz/media/pdf/pmr_2018119040156.pdf</a>
DOI - Digital Object Identifier
<a href="http://dx.doi.org/10.14712/23362936.2019.3" target="_blank" >10.14712/23362936.2019.3</a>
Alternative languages
Result language
angličtina
Original language name
The Age Dependent Progression of Hajdu-Cheney Syndrome in Two Families
Original language description
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 and osteoporosis. We report the progression of clinical and radiographic findings in five patients with Hajdu-Cheney syndrome from two families. A custom capture array designed to capture exons and adjacent intron sequences of 230 selected genes were used for molecular analyses, and the pathogenic variants identified were confirmed by PCR and Sanger sequencing. In both families we observed age-dependent changes in the disease, with a progression of pain in older patients, a shortening of digits and nail beds on both the hands and feet, kyphoscoliosis and the persistence of Wormian bones in lambdoid sutures. Molecular analyses performed in two patients revealed that they are heterozygotes for a c.6255T>A (p.Cys2085*) variant in the NOTCH2 gene, resulting in a premature stop-codon. Bone mineral density (Z-score < -2) did not improved in a girl treated with calcium and vitamin D supplementation during childhood and bisphosphonate during adolescence. Hajdu-Cheney syndrome is a slowly progressive disease with a frequently unfavourable prognosis in elderly patients, especially for the development of dental anomalies, osteoporosis and the progression of skeletal complications requiring orthopedic surgeries.
Czech name
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Czech description
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Classification
Type
J<sub>SC</sub> - Article in a specialist periodical, which is included in the SCOPUS database
CEP classification
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OECD FORD branch
10600 - Biological sciences
Result continuities
Project
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Continuities
I - Institucionalni podpora na dlouhodoby koncepcni rozvoj vyzkumne organizace
Others
Publication year
2018
Confidentiality
S - Úplné a pravdivé údaje o projektu nepodléhají ochraně podle zvláštních právních předpisů
Data specific for result type
Name of the periodical
Prague Medical Report
ISSN
1214-6994
e-ISSN
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Volume of the periodical
119
Issue of the periodical within the volume
4
Country of publishing house
CZ - CZECH REPUBLIC
Number of pages
9
Pages from-to
156-164
UT code for WoS article
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EID of the result in the Scopus database
2-s2.0-85061853115