Table 1.
Clinical Manifestations of GD and AD Patients
| Family | Origin | Diagnosis | Age (Years) | Height | Cardiac Involvement | Other |
|---|---|---|---|---|---|---|
| 1 | Belgium | GD | Death at 9 | <−6 SD (80 cm) | mitral stenosis and insufficiency | tracheotomy at 3 |
| 2 | France | GD | 18 | <−6 SD (112 cm) | mitral stenosis | HTAP, respiratory insufficiency, hepatomegaly, laryngeal stenosis |
| 3 | Russia | GD | 12 | <−6 SD (106 cm) | no | hepatomegaly |
| 4 | Switzerland | GD | 21 | <−6 SD (116 cm) | tricuspid stenosis, mild aortic insufficiency | |
| 5 | Russia | GD | 8 | −4 SD (103.5 cm) | no | |
| 6 | France | GD | 5.7 | −4 SD (97 cm) | no | laryngeal and respiratory insufficiency |
| 7 | U.K. | GD | Death at 3 | −5 SD (75 cm) | no | respiratory insufficiency, HTAP, Sleep apnea |
| 8 | Turkey | GD | 4.5 | −4 SD (85 cm) | mitral and tricuspide stenosis | respiratory insufficiency, hepatomegaly, spleep apnea |
| 9 | Algeria | GD | Death at 4 | <−6 SD (60 cm) | mitral and tricuspide stenosis | laryngeal and respiratory insufficiency, HTAP |
| 10 | Lebanon | GD | 14 | −3.5 SD (133 cm) | no | – |
| 11 | USA | GD | ? | ? | no | pyloric stenosis |
| 12 | Turkey | GD | 3 | −3 SD (85 cm) | no | |
| 13 | Russia | GD | 18 | −4 SD (134 cm) | mitral valve prolapse | |
| 14 | Iraq | GD | 11 | <−6 SD (92 cm) | yes | hepatomegaly |
| 15 | USA | GD | ? | ? | aortic stenosis, mitral and aortic valve insufficiencies | |
| 16 | Japan | GD | 9 | −6 SD (98 cm) | no | _ |
| 17 | Australia | GD | 3 | −4 SD (76 cm) | severe pulmonary hypertension | hepatomegaly |
| 18 | USA | GD | ? | ? | ||
| 19 | Korea/Japan | GD | 7 | −6 SD (88 cm) | mitral insufficiency | HTAP |
| 20 | France | AD | 10 | −6 SD (99 cm) | no | - |
| 21 | France | AD | 62 | −6 SD (125 cm) | no | broncho-pulmonary infection |
| 22-a | France | AD | 10 | −3 SD (121 cm) | no | |
| 22-b | France | AD | 13 | −3.5 SD (128 cm) | no | |
| 22-c | France | AD | 40 | −6 SD (128 cm) | no | mother of 22 a and 22b |
| 23 | Belgium | AD | 14 | <−6 SD (111 cm) | no | broncho-pulmonary infection |
| 24 | Netherlands | AD | 36 | <−6 SD (119cm) | no | carpal tunnel syndrome, laminectomy C1-C3 for cervical spine stenosis |
| 25 | France | AD | 13 | <−6 SD (104cm) | no | |
| 26 | Italy | AD | 43 | <−6 SD (129cm) | no | |
| 27-a | China | AD | 10 | −4 SD (117 cm) | no | |
| 27-b | China | AD | 35 | −5 SD (130 cm) | no | mother of 27a |
| 28 | France | AD | 54 | <−6 SD 125 cm | no | carpal tunnel syndrome |
| 29 | France | AD | 33 | −6 SD (125 cm) | no | asthma |