| Literature DB >> 8275564 |
E Bonioli1, C Bellini, F M Sénès, A Palmieri, M Di Stadio, G Pinelli.
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.Entities:
Mesh:
Year: 1993 PMID: 8275564 DOI: 10.1111/j.1399-0004.1993.tb03851.x
Source DB: PubMed Journal: Clin Genet ISSN: 0009-9163 Impact factor: 4.438