Literature DB >> 8275564

Slipped capital femoral epiphysis associated with Rubinstein-Taybi syndrome.

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.

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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


  3 in total

Review 1.  Rubinstein-Taybi syndrome: clinical features, genetic basis, diagnosis, and management.

Authors:  Donatella Milani; Francesca Maria Paola Manzoni; Lidia Pezzani; Paola Ajmone; Cristina Gervasini; Francesca Menni; Susanna Esposito
Journal:  Ital J Pediatr       Date:  2015-01-20       Impact factor: 2.638

Review 2.  Surgical treatment of scoliosis in Rubinstein-Taybi syndrome type 2: a case report.

Authors:  Nikolaos Bounakis; Christos Karampalis; Hilary Sharp; Athanasios I Tsirikos
Journal:  J Med Case Rep       Date:  2015-01-18

3.  Clinical description and mutational profile of a Moroccan series of patients with Rubinstein Taybi syndrome.

Authors:  Siham Chafai Elalaoui; Wiam Smaili; Julien Van-Gils; Patricia Fergelot; Ilham Ratbi; Mariam Tajir; Benoit Arveiler; Didier Lacombe; Abdelaziz Sefiani
Journal:  Afr Health Sci       Date:  2021-06       Impact factor: 0.927

  3 in total

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