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Patellar dislocation in Rubenstein-Taybi syndrome

C A Stevens1

  • 1Department of Pediatrics, T.C. Thompson Children's Hospital, University of Tennessee College of Medicine, Chattanooga 37403, USA.

American Journal of Medical Genetics
|October 23, 1997
PubMed
Summary

Rubinstein-Taybi syndrome (RTS) patients frequently experience patellar dislocations, often chronic and bilateral. Surgical repair generally leads to good outcomes and improved developmental skills.

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Area of Science:

  • Orthopedics
  • Genetics
  • Developmental Pediatrics

Background:

  • Rubinstein-Taybi syndrome (RTS) is a rare genetic disorder associated with intellectual disability and distinctive facial features.
  • Patellar dislocation is a known complication in some genetic syndromes, but its prevalence and impact in RTS require further elucidation.

Purpose of the Study:

  • To describe the characteristics and outcomes of patellar dislocations in patients with Rubinstein-Taybi syndrome.
  • To highlight the association between joint abnormalities and developmental delays in RTS.
  • To recommend appropriate screening and management strategies.

Main Methods:

  • Retrospective case series analysis of 11 patients diagnosed with Rubinstein-Taybi syndrome and patellar dislocation.
  • Review of patient records detailing age at diagnosis, dislocation characteristics (acute/chronic, unilateral/bilateral), associated joint abnormalities, and surgical interventions.
  • Assessment of developmental outcomes before and after surgical management.

Main Results:

  • Eleven patients with RTS and patellar dislocation were identified, with diagnosis ranging from birth to 16 years.
  • Ten patients had chronic dislocations, and 8 had bilateral involvement.
  • Eight patients underwent surgical patellar stabilization, achieving good outcomes.
  • Patellar dislocations were reported to impair developmental skills, with improvement noted post-surgery.
  • Seven patients had additional joint abnormalities, including congenital dislocations and joint laxity.

Conclusions:

  • Patellar dislocation is a significant orthopedic issue in Rubinstein-Taybi syndrome, frequently presenting as chronic and bilateral.
  • Surgical intervention for patellar instability in RTS patients can yield favorable results and positively impact developmental trajectories.
  • Regular and thorough joint examinations, particularly of the knees, are crucial for early detection of abnormalities that may impede motor skill development in individuals with RTS.

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