hrp0089p2-p191 | Fetal, Neonatal Endocrinology and Metabolism P2 | ESPE2018
El-Khairi Ranna
, Destamani Antonia
, Clements Emma
, Morgan Kate
, Hurst Jane
, Shah Pratik
Introduction: Rubenstein-Taybi Syndrome (RSTS)is a rare multiple congenital anomaly syndrome with a prevalence of 1:100,000 to 1:125,000. It is classically characterized by postnatal growth deficiency, microcephaly, learning difficulties, increased risk of tumour formation, broad thumbs and halluces and dysmorphic facial features including highly arched eyebrows, long eyelashes, downslanting palpebral fissures, broad nasal bridge, beaked nose, high arched palate and characteri...