Rubinstein – Taybi Syndrome (Rubinstein syndrome, broad thumb-hallux syndrome, broad thumbs and great toes, characteristic facies and mental retardation)
Are You Confident of the Diagnosis? Characteristic findings on physical examination Diagnosis is predominantly based on clinical findings: Musculoskeletal: broad thumbs and toes (99%), some with angulation, short stature, stiff gait, postnatal growth retardation (Figure 1) Craniofacial: beaked nose with nasal septum extending below the nostrils (87%), broad nasal bridge, downslanting palpebral fissures, hypertelorism, long…
