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

Harvard

Graversen, L, Handrup, MM, Irving, M, Hove, H, Diness, BR, Risom, L, Svaneby, D, Aagaard, MM, Vogel, I, Gjørup, H, Davidsen, M, Hellfritzsch, MB, Lauridsen, E & Gregersen, PA 2020, 'Phenotypic presentations of Hajdu-Cheney syndrome according to age - 5 distinct clinical presentations', European Journal of Medical Genetics, bind 63, nr. 2, 103650. https://doi.org/10.1016/j.ejmg.2019.04.007

APA

Graversen, L., Handrup, M. M., Irving, M., Hove, H., Diness, B. R., Risom, L., Svaneby, D., Aagaard, M. M., Vogel, I., Gjørup, H., Davidsen, M., Hellfritzsch, M. B., Lauridsen, E., & Gregersen, P. A. (2020). Phenotypic presentations of Hajdu-Cheney syndrome according to age - 5 distinct clinical presentations. European Journal of Medical Genetics, 63(2), [103650]. https://doi.org/10.1016/j.ejmg.2019.04.007

Vancouver

Graversen L, Handrup MM, Irving M, Hove H, Diness BR, Risom L o.a. Phenotypic presentations of Hajdu-Cheney syndrome according to age - 5 distinct clinical presentations. European Journal of Medical Genetics. 2020 feb.;63(2). 103650. https://doi.org/10.1016/j.ejmg.2019.04.007

Author

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. / Phenotypic presentations of Hajdu-Cheney syndrome according to age - 5 distinct clinical presentations. I: European Journal of Medical Genetics. 2020 ; Bind 63, Nr. 2.

Bibtex

@article{d1846a486dff4864937f6c2b38992e6a,

title = "Phenotypic presentations of Hajdu-Cheney syndrome according to age - 5 distinct clinical presentations",

abstract = "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.",

author = "Lise Graversen and Handrup, {Mette M{\o}ller} and Melita Irving and Hanne Hove and Diness, {Birgitte Rode} and Lotte Risom and Dea Svaneby and Aagaard, {Mads Malik} and Ida Vogel and Hans Gj{\o}rup and Michael Davidsen and Hellfritzsch, {Michel Bach} and Eva Lauridsen and Gregersen, {Pernille Ax{\'e}l}",

year = "2020",

month = feb,

doi = "10.1016/j.ejmg.2019.04.007",

language = "English",

volume = "63",

journal = "European Journal of Medical Genetics",

issn = "1769-7212",

publisher = "Elsevier Masson",

number = "2",

}

RIS

TY - JOUR

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

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