Table 1.

Comparison of clinical features of patients with frameshift mutations resulting in elongated and miscoded TBX5 proteins

Patient	Age years	Sex	Heart anomalies	Limb anomalies	Other features
c.1333delC [Böhm et al., 2008]	4	M	bradycardia due to severe atrioventricular block; muscular VSD; total ASD; right hypoplastic lung and pulmonary veins	bilateral triphalangeal thumbs; bilateral hypoplastic clavicles and radii	micrognathia; long philtrum
c.1304delT [present case]	1.3	M	bradycardia due to first-step atrioventricular block; conduction defect; muscular VSD; ASD; PDA	bilateral structurally normal thumbs with distal displacement; narrow shoulders; hypotrophy of muscles in region of shoulders	Prominent forehead; frenula of tongue and lip; simian crease in the left hand; cubitus valgus hands; pectus excavatum