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 |