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The evaluation of endocrine involvement in RASopathies is important for the care and follow‐up of patients affected by these conditions. Short stature is a cardinal feature of RASopathies and correlates with multiple factors. Growth hormone treatment is a therapeutic possibility to improve height and quality of life. Assessment of growth rate and growth laboratory parameters is routine, but age at...
Sommario Le sindromi da iperaccrescimento sono condizioni congenito-malformative caratterizzate da crescita eccessiva generalizzata o localizzata, coinvolgimento cognitivo, malformazioni d’organo, segni fenotipici distintivi e predisposizione neoplastica. Sono condizioni frequentemente di pertinenza endocrinologica, coinvolgendo in prima istanza la crescita staturo-ponderale. Le condizioni ad oggi...
Rubinstein–Taybi syndrome (RSTS) is a rare congenital neurodevelopmental disorder characterized by growth deficiency, skeletal abnormalities, dysmorphic features, and intellectual disability. Causative mutations in CREBBP and EP300 genes have been identified in ∼55% and ∼8% of affected individuals. To date, only 28 EP300 alterations in 29 RSTS clinically described patients have been reported. EP300...
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