Bonioli E, Bellini C, Sénès F M, Palmieri A, Di Stadio M, Pinelli G
Istituto Scientifico di Clinica Pediatrica, Università di Genova, Italy.
Clin Genet. 1993 Aug;44(2):79-81. doi: 10.1111/j.1399-0004.1993.tb03851.x.
The association of Rubinstein-Taybi syndrome (RTS) and slipped capital femoral epiphysis (SCFE) is described in a girl aged 9 years and 10 months. SCFE has never been reported associated with RTS, neither as an isolated anomaly, nor in a familial pedigree. However, a "stiff gait" is frequently described in RTS patients and, furthermore, obesity is a frequent feature of RTS patients. Some reports in the literature suggest the need for an early diagnosis of SCFE among adolescent relatives of patients with SCFE. Since many SCFEs are asymptomatic and an early diagnosis is essential for a favorable prognosis, we suggest an annual echotomographic or radiological examination of the hips in RTS patients.
本文描述了一名9岁10个月大女孩的鲁宾斯坦-泰比综合征（RTS）与股骨头骨骺滑脱（SCFE）的关联。此前从未有过SCFE与RTS相关的报道，无论是作为孤立异常还是在家族谱系中。然而，RTS患者经常被描述为“步态僵硬”，此外，肥胖也是RTS患者的常见特征。文献中的一些报告表明，需要对SCFE患者的青少年亲属进行SCFE的早期诊断。由于许多SCFE是无症状的，且早期诊断对良好预后至关重要，我们建议对RTS患者每年进行一次髋部超声断层扫描或放射学检查。
