Diagnostic imaging techniques in Rubinstein-Taybi syndrome

Both etiology and pathogenesis of Rubinstein-Taybi syndrome (RTS) are still questionable, even though a genetic factor seems to be certain. A typical face, psychomotor delay, and thumb and halluces abnormalities (big, prevalently short, and often 'spoon-like' toes) are the main characteristic patterns of RTS. Eight subjects (4 male and 3 female children aged 26 days-7 years, and a 31-year old woman, mother of 1 of the affected children) with different signs of RTS were studied over the last 3 years. The results are here reported, with a special emphasis on malformations detected with conventional radiography (Rx), Computerized Tomography (CT), and ultrasound (US). Evaluated parameters were thumbs and halluces (Rx), bone age and skeleton (Rx), cranium (Rx) and encephalon (US, CT), cryptochidism (US, CT), and urogical (Rx, US) and carciovascolar (US) system. Atypical face and psycomotor delay were found in all cases, while thumb and halluces abnormalities were observed only in 6 cases. Among several clinical signs of RTS, we found: severe (<3rd centile) bone maturation delay in 4 cases; skull volume reduction (<50th centile) in 3 subjects and microcrania in 4; skeletal abnormalities in 7 cases (5 of them positive for bilateral coxofemoral abnormalities); urinary tract (4 cases) and cardiovascular (3 cases) malformation; and cryptorcidism in 3 of 4 males. A case was diagnosed during neonatal period (within the first month of life) it was a rare case associated with a variant form of Dandy-Walker anomaly; semiologic similarities were observed between mother and daughter patients. X-rays, US and CT rarely play an important role in the diagnosis of RTS, considering the several clinical signs, mainly tha face, affecting the patients. However, diagnostic imaging techniques help diagnose hidden malformations and confirm and integrate clinical signs