Cortés-Martín Jonathan, Díaz-Rodríguez Lourdes, Piqueras-Sola Beatriz, Sánchez-García Juan Carlos, González Antonio Liñán, Rodríguez-Blanque Raquel
Research Group CTS1068, Andalusia Research Plan, Junta de Andalucía, 18014 Granada, Spain.
School of Nursing, Faculty of Health Sciences, University of Granada, 18071 Granada, Spain.
J Clin Med. 2022 Sep 2;11(17):5205. doi: 10.3390/jcm11175205.
A case report of an 11-year-old boy with a de novo variant in NOTCH2 and clinical features characteristic of Hajdu-Cheney syndrome is reported, with acroosteolysis of the distal phalanges of the feet and hands, generalized osteoporosis, musculoskeletal and craniofacial alterations, short stature, bowing of long bones, vertebral anomalies, genu recurvatum, hypertrichosis, joint and skin hyperlaxity, atopic dermatitis, megalocorneas, micrognathia and frequent respiratory infections, among others. Treatment is with bisphosphonates in the framework of bone density improvement and with focal vibration therapy for rehabilitation of the musculoskeletal system and gait improvement. The three generalities of this pathology-phenotypic variability, degenerative character and the presence of generalized osteoporosis and acroosteolysis of the distal phalanges-are seen in this case, whose diagnostic confirmation was made by genetic study.
报告了一例11岁男孩，其NOTCH2基因存在新发变异，具有Hajdu-Cheney综合征的临床特征，包括手足远端指骨骨质溶解、全身性骨质疏松、肌肉骨骼和颅面改变、身材矮小、长骨弯曲、椎体异常、膝反屈、多毛症、关节和皮肤过度松弛、特应性皮炎、巨角膜、小颌畸形以及频繁的呼吸道感染等。治疗方法包括在改善骨密度的框架下使用双膦酸盐，以及采用局部振动疗法来恢复肌肉骨骼系统和改善步态。该病例体现了这种疾病的三个特点——表型变异性、退行性特征以及全身性骨质疏松和远端指骨骨质溶解的存在，其诊断通过基因研究得以证实。
