Rubinstein-Taybi syndrome (RTS) is an autosomal dominant disorder with multiple congenital anomalies that is characterized by distinctive facial appearance, growth, and mental retardation, and musculoskeletal (MSK) abnormalities. Here, we report two sisters with RTS with serial MSK problems. The older sister, a 27-year-old female with a history of RTS diagnosed at the age of 10 years, was found to have left elbow instability with habitual dislocation and left patellar subluxation. The younger sister, a18-year-old female with a history of RTS diagnosed at 8 months old, was found to have several MSK problems: bilateral patellar subluxation, left elbow subluxation, right ankle subluxation, and right lateral cuneiform a vascular necrosis with calcaneonavicular osteophyte. Both sisters had functional deterioration due to joint pain. They underwent serial surgeries and rehabilitation and experienced improved physical function after treatment.
Chien, Tzu-Hsuan; Tsai, Li-Pin; Wang, Chen-Chie; Hung, Shuo-Suei; and Wu, Hsin-Chi
"Rubinstein-Taybi Syndrome: Musculoskeletal Abnormality and Its Treatment, A Report of Two Sisters,"
Rehabilitation Practice and Science: Vol. 2023:
1, Article 6.
Available at: https://rps.researchcommons.org/journal/vol2023/iss1/6