Hajdu–Cheney Syndrome: A Systematic Review of the Literature
Metadatos
Mostrar el registro completo del ítemAutor
Cortés Martín, Jonathan; Díaz Rodríguez, Consuelo Lourdes; Piqueras Sola, Beatriz; Rodríguez Blanque, Raquel; Bermejo Fernández, Antonio; Sánchez García, Juan CarlosEditorial
MDPI
Materia
Hajdu-Cheney syndrome Acroosteolysis Receptor NOTCH2 Connective tissue Rare diseases
Fecha
2020-08-25Referencia bibliográfica
Cortés-Martín, J., Díaz-Rodríguez, L., Piqueras-Sola, B., Rodríguez-Blanque, R., Bermejo-Fernández, A., & Sánchez-García, J. C. (2020). Hajdu–Cheney Syndrome: A Systematic Review of the Literature. International Journal of Environmental Research and Public Health, 17(17), 6174. [doi:10.3390/ijerph17176174]
Resumen
Hajdu–Cheney syndrome (HCS) is a rare genetic disease that causes acroosteolysis and
generalized osteoporosis, accompanied by a series of developmental skeletal disorders and multiple
clinical and radiological manifestations. It has an autosomal dominant inheritance, although there
are several sporadic non-hereditary cases. The gene that has been associated with Hajdu-Cheney
syndrome is NOTCH2. The described phenotype and clinical signs and symptoms are many,
varied, and evolve over time. As few as 50 cases of this disease, for which there is currently no
curative treatment, have been reported to date. The main objective of this systematic review was
to evaluate the results obtained in research regarding Hajdu–Cheney Syndrome. The findings are
reported in accordance with the Preferred Reporting Items for Systematic reviews and Meta-Analyses
(PRISMA) guidelines and were registered on the web PROSPERO under the registration number
CRD42020164377. A bibliographic search was carried out using the online databases Orphanet,
PubMed, and Scielo; articles from other open access sources were also considered. Finally, 76 articles
were included, and after their analysis, we have obtained a series of hypotheses as results that will
support further studies on this matter.