Rubinstein‐Taybi syndrome medical guidelines

Abstract

Children and adults with Rubinstein-Taybi Syndrome have specific medical conditions that occur with greater frequency than the general population. Based on the available information from the literature and clinical experience, recommendations for specific surveillance and interventions are made to guide those clinicians caring for individuals with Rubinstein-Taybi Syndrome. This is a first attempt at medical guidelines for individuals with RTS in the United States. On-going research is needed in many areas to guide decisions in medical care and allow for refinement of these medical guidelines.

Cornelia De Lange, Cri Du Chat, and Rubinstein-Taybi Syndromes

“…Other findings include a tendency for individuals to be "more emotional", excitable and show a dislike for loud noises. (Gotts & Liemohn, 1977;Stevens et al, 1990). …”

“…Descriptions typically include a prominent 'beaked' nose, eyes with downward slanting palpebral fissures, long eyelashes, thick eyebrows, and a small mouth (Hennekam, 2006;Hennekam, Van Den Boogaard, Sibbles & Spijker, 1990b;Rubinstein, 1990;Stevens et al 1990a;Wiley, Swayne, Rubinstein, Lanphear & Stevens, 1990). Allanson (1990) reviewed those with the diagnosis of various ages and provided evidence for a changing facial phenotype.…”

“…An early study of those with the diagnosis who were institutionalised suggested an average IQ of 36 with a range of 15-59 (Padfield, Partington & Simpson, 1968). However, more recently an IQ estimate of 51 with a range of 30 to 79 in those who are not institutionalised has been suggested (Stevens et al 1990). It is thought that most individuals lie within the mild to moderate range.…”

Investigação genético-clínica em pacientes com síndrome de Rubinstein-Taybi

“…As seguintes anomalias estruturais das vias respiratórias foram descritas na SRT: anéis vasculares (Sashie et al, 1995), membrana pós-cricóide (Scott et al, 2000), defeito submucoso do palato e anormalidades da árvore brônquica (Wiley et al, 2003).…”

“…Segundo as diretrizes médicas para seguimento clínico dos pacientes com SRT (Wiley et al, 2003), os pacientes devem ser avaliados por médico geneticista pediátrico especializado em Dismorfologia para confirmar a suspeita diagnóstica. Os critérios diagnósticos maiores consistem em fácies peculiar, polegares e/ou háluces alargados, deficiência mental e de crescimento.…”