Ocular features in Rubinstein-Taybi syndrome: investigation of 24 patients and review of the literature

MM van Genderen, GF Kinds, FCC Riemslag… - British journal of …, 2000 - bjo.bmj.com
patient with Rubinstein-Taybi syndrome. (D) Typical foot characteristics in the same patient.
… Right fundus of 37 year old female patient with Rubinstein-Taybi syndrome showing a pale …

RubinsteinTaybi syndrome: clinical and molecular overview

JH Roelfsema, DJM Peters - Expert reviews in molecular medicine, 2007 - cambridge.org
… The cause of the syndrome in the remaining patients remains … clinical presentation of
RubinsteinTaybi syndrome, review … RubinsteinTaybi syndrome (official abbreviation RSTS, but …

Etiology and recurrence risk in RubinsteinTaybi syndrome

RCM Hennekam, CA Stevens… - American Journal of …, 1990 - Wiley Online Library
… Here we present the combined epidemiologic data concerning 45 Dutch patients and 50
patients from the USA with RubinsteinTaybi syndrome and review the literature. Recurrence …

RubinsteinTaybi syndrome: A natural history study

CA Stevens, JC Carey… - American Journal of …, 1990 - Wiley Online Library
… of the Rubinstein-Taybi syndrome, we performed a questionnaire study of 50 patients who
had … Individuals with Rubinstein-Taybi syndrome were found to have particular difficulty with …

Molecular analysis of the CBP gene in 60 patients with Rubinstein-Taybi syndrome

I Coupry, C Roudaut, M Stef, MA Delrue… - Journal of Medical …, 2002 - jmg.bmj.com
… of patients. However, a highly arched palate, which is a well known sign of Rubinstein-Taybi
syndrome, was found in 15/16 patients … Also interesting is the fact that none of the patients (0/…

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

D Milani, FMP Manzoni, L Pezzani, P Ajmone… - Italian Journal of …, 2015 - Springer
Background Rubinstein-Taybi syndrome (RSTS) is an extremely rare autosomal dominant
genetic disease, with an estimated prevalence of one case per 125,000 live births. RSTS is …

[HTML][HTML] Rubinstein-Taybi syndrome: Clinical profile of 11 patients and review of literature

S Kumar, R Suthar, I Panigrahi… - Indian Journal of Human …, 2012 - ncbi.nlm.nih.gov
Rubinstein-Taybi syndrome (RSTS) is a multiple congenital anomalies-mental retardation
syndrome… Clinical characteristics of present cohort of patients with Rubinstein-Taybi syndrome

RubinsteinTaybi syndrome in the Netherlands

RCM Hennekam, MJ Van Den Boogaard… - American Journal of …, 1990 - Wiley Online Library
… of 45 patients with Rubinstein-Taybi syndrome living in The Netherlands. All had broad
halluces, but only 39 patients had broad thumbs. Microcephaly was present in 35% of patients. In …

Adults with RubinsteinTaybi syndrome

CA Stevens, J Pouncey… - American Journal of …, 2011 - Wiley Online Library
… Since this is a rare syndrome (1 in 100,000) we were unable to personally evaluate each
patient and, therefore, a questionnaire design was used. We had to rely on the parents/…

[PDF][PDF] Rubinstein-Taybi syndrome. Review of 732 cases and analysis of the typical traits

A Cantani, D Gagliesi - Eur Rev Med Pharmacol Sci, 1998 - europeanreview.org
patients is the Rubinstein-Taybi syndrome; 571 cases are reported in a study by Rubinstein29;
they come from 40 countries. Additionally 45 patients … and another patient shows RTS as…