PDF(Pubmed)
Abstract：
Frank-Ter Haar syndrome (FTHS), Winchester syndrome (WS), Torg syndrome (TS) and Multicentric Osteolysis Nodulosis and Arthropathy (MONA) are progressive skeletal dysplasia consisting of acro-osteolysis. Mutation in Matrix Metalloproteinase 2 (MMP2), Matrix Metalloproteinase 14 (MMP14) and SH3PXD2B are known genetic defects in these disorders. We hereby report a 5 years and 9 months old girl suffering from progressive limb deformity. She is the first child of a relative couple, who was referred to metabolic disorders\' clinic due to poor growth and bone pain. On physical examination, minor facial dysmorphism, hypertrichosis, severe hand deformity with limitation in range of motion in carpal, metacarpal and phalangeal joints, hallux valgus deformity of feet, soft tissue hypertrophy and nodule formation in palmoplantar areas were detected. Her past history indicated a cardiac defect resulting in open heart surgery at 8 months of age. Genetic study revealed a new homozygote nonsense mutation in MMP2 gene explaining her clinical manifestations. We recommend careful evaluation and follow-up of patients with congenital heart disease, as it may be the first presentation of a genetic multisystem disorder. Early differentiation of the disease from other skeletal dysplasia and rheumatologic disorders could prevent unnecessary management.
摘要：
Frank-TerHaar综合征(FTHS),温彻斯特综合征（WS），Torg综合征（TS）和多中心性骨质溶解结节病和关节病（MONA）是进行性骨骼发育不良，包括肢端骨溶解。基质金属蛋白酶2（MMP2）的突变，基质金属蛋白酶14（MMP14）和SH3PXD2B是这些疾病中已知的遗传缺陷。我们特此报告一名患有进行性肢体畸形的5岁零9个月大女孩。她是一对亲戚的第一个孩子，由于生长不良和骨痛，他被转诊到代谢紊乱诊所。在体检时，轻微的面部畸形，多毛症,严重的手部畸形，腕关节活动范围有限，掌骨和指骨关节，足外翻畸形,检测到掌足底区域的软组织肥大和结节形成。她过去的病史表明心脏缺陷导致8个月大的心脏直视手术。遗传研究揭示了MMP2基因中一个新的纯合子无义突变，解释了她的临床表现。我们建议对先天性心脏病患者进行仔细的评估和随访,因为这可能是遗传性多系统疾病的首次出现。早期将疾病与其他骨骼发育不良和风湿病区分开来可以防止不必要的治疗。
