Rubinstein-Taybi Syndrome: Musculoskeletal Abnormality and Its Treatment, A Report of Two Sisters

Authors

Tzu-Hsuan Chien, Departments of Physical Medicine and Rehabilitation, Taipei Tzu Chi Hospital, Buddhist Tzu Chi Medical Foundation, New Taipei City
Li-Pin Tsai, Departments of Pediatrics, Taipei Tzu Chi Hospital, Buddhist Tzu Chi Medical Foundation, New Taipei City; School of Medicine, Tzu Chi University, Hualien
Chen-Chie Wang, Departments of Orthopedics, Taipei Tzu Chi Hospital, Buddhist Tzu Chi Medical Foundation, New Taipei City; School of Medicine, Tzu Chi University, Hualien
Shuo-Suei Hung, Departments of Orthopedics, Taipei Tzu Chi Hospital, Buddhist Tzu Chi Medical Foundation, New Taipei City; School of Medicine, Tzu Chi University, Hualien
Hsin-Chi Wu, School of Medicine, Tzu Chi University, HualienFollow

Abstract

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.

Language

English

DOI Link

https://doi.org/10.6315/TJPMR.202306_2023(1).0006

Recommended Citation

Chien, Tzu-Hsuan; Tsai, Li-Pin; Wang, Chen-Chie; Hung, Shuo-Suei; and Wu, Hsin-Chi (2023) "Rubinstein-Taybi Syndrome: Musculoskeletal Abnormality and Its Treatment, A Report of Two Sisters," Rehabilitation Practice and Science: Vol. 2023: Iss. 1, Article 6.
DOI: https://doi.org/10.6315/TJPMR.202306_2023(1).0006
Available at: https://rps.researchcommons.org/journal/vol2023/iss1/6