RT Journal Article
T1 Hajdu-Cheney Syndrome: Report of a Case in Spain.
A1 Cortés-Martín, Jonathan
A1 Sánchez-García, Juan Carlos
A1 Piqueras-Sola, Beatriz
A1 Rodríguez-Blanque, Raquel
A1 Tovar-Gálvez, María Isabel
A1 Díaz-Rodríguez, Lourdes
K1 Hajdu-Cheney syndrome
K1 acroosteolysis
K1 bone re-sorption
K1 osteoporosis
K1 rare diseases
AB This paper describes the case of a 54-year-old woman diagnosed with Hajdu-Cheney syndrome, who presents with characteristic craniofacial dysmorphia, short stature, premature loss of teeth, developmental skeletal disorders, fibrocystic mastopathy, bilateral hearing loss and an intermittent mild neutropenia. The patient received treatment with bisphosphonates and was awaiting evaluation for surgical arthroplasty of both hips when she suffered a motor vehicle accident, which led to a rapid progression in her disease by increasing her degree of dependence for most activities of daily living. The clinical presentation and radiologic findings seen in this case confirm the three main features of the syndrome: phenotypic variability, an age-dependent progression and the presence of generalized osteoporosis and acroosteolysis of distal phalanges. The main objective of the manuscript is to describe a new case of a patient diagnosed with Hajdu-Cheney syndrome. Due to the low prevalence of the syndrome and the small number of cases reported in the scientific literature, obtaining a complete description and a global perspective of the disease is complex.
SN 2075-4418
YR 2022
FD 2022-02-23
LK http://hdl.handle.net/10668/20959
UL http://hdl.handle.net/10668/20959
LA en
DS RISalud
RD Apr 11, 2025