Table 1.

 Clinical data of HOS patients with an identified mutation in the TBX5 gene

ID number	Age (years)	Sex	Clinical description		Mutation in TBX5
			Heart anomalies	Limb anomalies
Familial cases
IPM 1	31	F	Conductive heart failure	Left and right thumb anomaly	IVS3-2 A>G
IPM 2-1	14	F	Ventricular septal defect	Left aplastic thumb, right triphalangeal thumb	280delC>FS ter
IPM 2-2	16	F	Atrial septal defect II, several ventricular septal defects	Left and right hypoplastic claviculae, radii triphalangeal thumbs, hypoplastic left ulna	280delC>FS ter
IPM 2-3	42	F	Ventricular septal defect	Left and right triphalangeal thumbs	280delC>FS ter
IPM 3-1	21	F	Atrial septal defect II, open foramen ovale	Left and right hypoplastic thumbs	Y136X
IPM 3-2	44	F	Atrial septal defect	Hypoplastic thumbs, movement restriction of elbow and shoulder joints	Y136X
IPM 3-3	47	M	Atrial septal defect	Left and right hypoplastic thumbs	Y136X
IPM 4-1	42	M	Atrial septal defect	Left and right hypoplastic humeri	Y136X
IPM 4-2	58	M	Atrial septal defect	Left hypoplastic M. deltoideus, radius and thumb, right triphalangeal thumb	Y136X
IPM 4-3	61	M	Atrial septal defect	Left and right aplastic thumbs	Y136X
Sporadic cases
IPM 5	23	F	Atrial septal defect II	Left and right thumb anomalies	467insA>FS ter
IPM 6	30	F	Aneurysm of the atrial septum bradycardia	Left aplastic radius and ulna, hypoplastic humerus, aplastic thumb and index finger, right hypoplastic radius, aplastic index finger, triphalangeal thumb	484ins46bp>FS ter
IPM 7	3	F	Small atrial septal defect, ventricular septal defect	Left and right thumb anomalies	IVS7-3 C>G
IPM 8	31	F	Common atrium, complete atrioventricular canal	Left phocomelia, hypoplastic radius, right hypoplastic thumb	R279X
IPM 9	14	F	Atrial septal defect, ventricular septal defect, pulmonary vein anomaly	Left and right triphalangeal thumb, movement restriction of shoulder joints	Q362X