Slipped capital femoral epiphysis associated with Rubinstein-Taybi syndrome

E. Bonioli, C. Bellini, F. M. Senes, A. Palmieri, M. Di Stadio, G. Pinelli

Research output: Contribution to journalArticlepeer-review

Abstract

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.

Original languageEnglish
Pages (from-to)79-81
Number of pages3
JournalClinical Genetics
Volume44
Issue number2
Publication statusPublished - 1993

Keywords

  • Rubinstein-taybi syndrome
  • Slipped capital femoral epiphysis

ASJC Scopus subject areas

  • Genetics
  • Genetics(clinical)

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