Hajdu-Cheney Syndrome: Report of a Case in Spain
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Cortés Martín, Jonathan; Sánchez García, Juan Carlos; Piqueras Sola, Beatriz; Rodríguez Blanque, Raquel; Tovar Gálvez, María Isabel; Díaz Rodríguez, Consuelo LourdesEditorial
MDPI
Materia
Hadju-Cheney syndrome Rare diseases Acroosteolysis Osteoporosis Bone re-sorption
Date
2022-02-23Referencia bibliográfica
Cortés-Martín, J... [et al.]. Hajdu-Cheney Syndrome: Report of a Case in Spain. Diagnostics 2022, 12, 566. [https://doi.org/10.3390/diagnostics12030566]
Abstract
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.