Phenotypic presentations of Hajdu-Cheney syndrome according to age - 5 distinct clinical presentations
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Phenotypic presentations of Hajdu-Cheney syndrome according to age - 5 distinct clinical presentations. / Graversen, Lise; Handrup, Mette Møller; Irving, Melita; Hove, Hanne; Diness, Birgitte Rode; Risom, Lotte; Svaneby, Dea; Aagaard, Mads Malik; Vogel, Ida; Gjørup, Hans; Davidsen, Michael; Hellfritzsch, Michel Bach; Lauridsen, Eva; Gregersen, Pernille Axél.
I: European Journal of Medical Genetics, Bind 63, Nr. 2, 103650, 02.2020.Publikation: Bidrag til tidsskrift › Tidsskriftartikel › Forskning › fagfællebedømt
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T1 - Phenotypic presentations of Hajdu-Cheney syndrome according to age - 5 distinct clinical presentations
AU - Graversen, Lise
AU - Handrup, Mette Møller
AU - Irving, Melita
AU - Hove, Hanne
AU - Diness, Birgitte Rode
AU - Risom, Lotte
AU - Svaneby, Dea
AU - Aagaard, Mads Malik
AU - Vogel, Ida
AU - Gjørup, Hans
AU - Davidsen, Michael
AU - Hellfritzsch, Michel Bach
AU - Lauridsen, Eva
AU - Gregersen, Pernille Axél
N1 - Copyright © 2019 Elsevier Masson SAS. All rights reserved.
PY - 2020/2
Y1 - 2020/2
N2 - 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.
AB - 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.
U2 - 10.1016/j.ejmg.2019.04.007
DO - 10.1016/j.ejmg.2019.04.007
M3 - Journal article
C2 - 30980954
VL - 63
JO - European Journal of Medical Genetics
JF - European Journal of Medical Genetics
SN - 1769-7212
IS - 2
M1 - 103650
ER -
ID: 237419239