title: Slipped capital femoral epiphysis associated with Rubinstein-Taybi syndrome.
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.
authors.affiliation: Istituto Scientifico di Clinica Pediatrica, Università di Genova, Italy.
authors.forename: E
authors.initials: E
authors.lastname: Bonioli
authors.forename: C
authors.initials: C
authors.lastname: Bellini
authors.forename: F M
authors.initials: FM
authors.lastname: Sénès
authors.forename: A
authors.initials: A
authors.lastname: Palmieri
authors.forename: M
authors.initials: M
authors.lastname: Di Stadio
authors.forename: G
authors.initials: G
authors.lastname: Pinelli
mesh_terms: D002648:Child; D004839:Epiphyses, Slipped / Q000235:genetics*; D005260:Female; D005270:Femur Head; D005799:Genes, Dominant; D006801:Humans; D012415:Rubinstein-Taybi Syndrome / Q000235:genetics*