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Rigshospitalet - a part of Copenhagen University Hospital
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Phenotypic presentations of Hajdu-Cheney syndrome according to age - 5 distinct clinical presentations

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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.

Original languageEnglish
JournalEuropean Journal of Medical Genetics
Volume63
Issue number2
Pages (from-to)103650
ISSN1769-7212
DOIs
Publication statusPublished - Feb 2020

Bibliographical note

Copyright © 2019 Elsevier Masson SAS. All rights reserved.

    Research areas

  • Acro-osteolysis, Genetic diseases, Hajdu-Cheney syndrome, Mosaicism, NOTCH2, Osteoporosis, Rare diseases

ID: 58278978