Prague Med. Rep. 2018, 119, 156-164

https://doi.org/10.14712/23362936.2019.3

The Age Dependent Progression of Hajdu-Cheney Syndrome in Two Families

Jitka Jirečková1, Martin Magner1, Lukáš Lambert2, Alice Baxová3, Alena Leiská2, Lenka Kopečková4, Lenka Fajkusová4, Jiří Zeman1

1Department of Pediatrics and Adolescent Medicine, First Faculty of Medicine, Charles University and General University Hospital in Prague, Prague, Czech Republic
2Department of Radiology, First Faculty of Medicine, Charles University and General University Hospital in Prague, Prague, Czech Republic
3Institute of Biology and Medical Genetics, First Faculty of Medicine, Charles University and General University Hospital in Prague, Prague, Czech Republic
4Centre of Molecular Biology and Gene Therapy, Masaryk University in Brno and University Hospital Brno, Brno, Czech Republic

Received November 28, 2018
Accepted January 31, 2019

Crossref Cited-by Linking

  • Tėvelytė Ieva, Bertašius Paulius, Aleknavičienė Kristina, Jonikas Rimvydas, Klimaitė Justina, Jašinskienė Edita, Traberg Rasa: First case of Hajdu-Cheney syndrome in Lithuania caused by novel NOTCH2 gene likely pathogenic variant. European Journal of Medical Genetics 2024, 69, 104938. <https://doi.org/10.1016/j.ejmg.2024.104938>
  • Abdelkarim Mariam, Alageel Dalal, Ahsan Faridul, Alhuthil Raghad, Alsarhani Haifa, Alsagheir Afaf: Hajdu-Cheney syndrome with a novel variant in NOTCH2 gene: A case report. Bone Reports 2023, 19, 101709. <https://doi.org/10.1016/j.bonr.2023.101709>
  • Osorio Moreno Laura Tatiana, Del Valle Saavedra Juan Jacobo, Saldarriaga Santamaria Sara, Londoño García Ángela María, Márquez Morón María del Pilar: Melanoniquia longitudinal y el síndrome de Hadju Cheney: relación entre estas 2 entidades. Piel 2023, 38, 542. <https://doi.org/10.1016/j.piel.2022.12.009>
  • Cortés-Martín Jonathan, Sánchez-García Juan Carlos, Piqueras-Sola Beatriz, Rodríguez-Blanque Raquel, Tovar-Gálvez María Isabel, Díaz-Rodríguez Lourdes: Hajdu-Cheney Syndrome: Report of a Case in Spain. Diagnostics 2022, 12, 566. <https://doi.org/10.3390/diagnostics12030566>
  • Cortés-Martín Jonathan, Díaz-Rodríguez Lourdes, Piqueras-Sola Beatriz, Sánchez-García Juan Carlos, Menor-Rodríguez María José, Rodríguez-Blanque Raquel: Nursing Care Plan for Patients with Hajdu\u2013Cheney Syndrome. IJERPH 2022, 19, 7489. <https://doi.org/10.3390/ijerph19127489>
  • Efstathiadou Zoe A., Kostoulas Charilaos, Polyzos Stergios A., Adamidou Fotini, Georgiou Ioannis, Kita Marina: A mutation in NOTCH2 gene first associated with Hajdu–Cheney syndrome in a Greek family: diversity in phenotype and response to treatment. Endocrine 2021, 71, 208. <https://doi.org/10.1007/s12020-020-02446-7>
  • Kaczoruk-Wieremczuk Magdalena, Adamska Paulina, Adamski Łukasz Jan, Wychowański Piotr, Jereczek-Fossa Barbara Alicja, Starzyńska Anna: Oral Surgery Procedures in a Patient with Hajdu-Cheney Syndrome Treated with Denosumab—A Rare Case Report. IJERPH 2021, 18, 9099. <https://doi.org/10.3390/ijerph18179099>
  • Cortés-Martín Jonathan, Díaz-Rodríguez Lourdes, Piqueras-Sola Beatriz, Rodríguez-Blanque Raquel, Bermejo-Fernández Antonio, Sánchez-García Juan Carlos: Hajdu–Cheney Syndrome: A Systematic Review of the Literature. IJERPH 2020, 17, 6174. <https://doi.org/10.3390/ijerph17176174>
Crossref Cited-by Linking logo