Cortés-Martín Jonathan, Sánchez-García Juan Carlos, Piqueras-Sola Beatriz, Rodríguez-Blanque Raquel, Tovar-Gálvez María Isabel, Díaz-Rodríguez Lourdes
Andalusia Research Plan, Junta de Andalucía, Research Group CTS1068, School of Nursing, Faculty of Health Sciences, University of Granada, 18071 Granada, Spain.
School of Nursing, Faculty of Health Sciences, University of Granada, 18071 Granada, Spain.
Diagnostics (Basel). 2022 Feb 23;12(3):566. doi: 10.3390/diagnostics12030566.
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.
本文描述了一名54岁被诊断为哈伊杜-切尼综合征的女性病例，该患者表现出典型的颅面畸形、身材矮小、牙齿过早脱落、发育性骨骼疾病、纤维囊性乳腺病、双侧听力丧失以及间歇性轻度中性粒细胞减少。患者接受了双膦酸盐治疗，在等待双侧髋关节手术置换评估时遭遇机动车事故，这导致她对大多数日常生活活动的依赖程度增加，病情迅速进展。该病例中的临床表现和影像学检查结果证实了该综合征的三个主要特征：表型变异性、年龄依赖性进展以及远端指骨普遍骨质疏松和骨质溶解。本文的主要目的是描述一例新诊断为哈伊杜-切尼综合征的患者病例。由于该综合征患病率低且科学文献中报道的病例数量少，全面描述该疾病并获得其整体情况较为复杂。
