Table 1. .
Clinical Description of Patients with TAR Syndrome[Note]
| Finding in Patient |
|||||||||||||||||||||||||||||||
| Characteristic | 1 | 2 | 3a | 4 | 5 | 6 | 7b | 8 | 9 | 10a | 11a | 12 | 13 | 14a | 15 | 16c | 17a | 18 | 19 | 20 | 21 | 22 | 23 | 24 | 25 | 26 | 27 | 28 | 29d | 30d | Summary (%) |
| Inheritance of deletion | Maternal | Maternal | Maternal | Maternal | Maternal | Maternal | Maternal | Maternal | Paternal | Paternal | De novo | De novo | De novo | De novo | NA | Paternal | NA | NA | NA | Maternal | NA | De novo | Paternal | Paternal | Maternal | Maternal | NA | NA | NA | Maternal | |
| Sex | F | F | F | F | F | M | M | M | F | F | F | M | M | M | M | M | F | M | F | F | F | F | F | F | M | M | F | F | F | F | |
| Age at last follow-up | 26 years | 17 years | 17 years | 2 years | 6 months | 34 years | 4 years | 2 years | 18 years | 13 years | 12 years | 3 years | 26 years | 10 years | 23 years | 13 years | 10 years | 9 years | 22 years | 30 years | 27 years | 1 year | 9 years | 13 years | 23 years | 20 years | 33 years | 45 years | 34 | Fetus | |
| Thrombocytopenia | + | + | + | + | + | + | + | + | + | + | + | + | + | + | + | + | + | + | + | + | + | + | + | + | + | + | + | + | + | ND | (29/29) 100 |
| Upper-limb anomalies: | |||||||||||||||||||||||||||||||
| Radial aplasia | + | + | + | + | + | + | + | + | + | + | + | + | + | + | + | + | + | + | + | + | + | + | + | + | + | + | + | + | + | + | (30/30) 100 |
| Thumb hypoplasia | + | + | + | + | + | + | + | + | + | + | ND | + | − | +(Adducted) | + | + | + | + | + | + | + | + | + | + | ND | ND | ND | + | + | + | (25/26) 96 |
| Ulnar hypoplasia | + | + | + | + | + | + | + | + | + | + | + | + | + | + | + | + | + | + | + | + | + | + | + | + | ND | ND | + | + | + | + | (27/27) 100 |
| Humeral hypoplasia | + | + | − | + | + | + | + | + | − | − | + | + | − | + | + | + | + | + | + | + | + | − | − | − | ND | ND | ND | + | − | − | (18/27) 67 |
| Phocomelia | − | − | − | − | + | + | + | + | − | − | − | − | − | + | + | + | + | − | − | + | − | − | − | − | ND | ND | + | − | − | − | (9/27) 33 |
| Hypoplasia of shoulder girdle | − | + | + | − | − | − | + | + | − | + | − | + | + | + | + | − | + | + | − | + | + | + | + | − | ND | ND | + | − | − | − | (15/27) 55 |
| Lower-limb anomalies: | Vertical talus | ||||||||||||||||||||||||||||||
| Bowing/shortening of long bones | − | − | − | + | − | − | + | + | − | − | − | + | − | − | + | + | + | − | − | − | − | ND | − | − | ND | ND | ND | − | − | − | (7/27) 26 |
| Hip dysplasia | + | + | − | + | − | − | + | + | − | − | − | + | − | + | + | + | + | − | − | + | + | ND | − | − | ND | ND | ND | + | − | − | (13/27) 48 |
| Knee abnormalities | − | ND | Genu varum | Flexion contracture | − | Genu varum | Flexion contracture | Patella aplasia | − | − | − | ND | − | ND | Genu valgum | Flexion contracture | Genu varum | − | − | + | Genu valgum | ND | − | − | ND | ND | ND | + | − | − | (10/24) 42 |
| Longitudinal reduction defect | − | − | − | + | − | − | − | − | − | − | − | − | − | − | − | − | + | − | − | − | − | ND | − | − | ND | ND | ND | − | − | − | (2/27) 7 |
| Height (percentile) | <3rd | 10th | 10th | <3rd | 50th | 10th | <3rd | <3rd | 50th | 10th | ND | <3rd | 90th | ND | <3rd | ND | <3rd | 50th | 50th | 3rd | ND | <3rd | 25th | ND | ND | ND | Reduced | 75th | ND | ND | |
| Congenital heart defect | − | − | + (VSD) | − | − | − | ND | − | + (VSD) | + (VSD) | − | − | − | − | − | − | − | − | − | − | − | − | − | − | ND | ND | ND | − | − | − | (3/26) 12 |
| Genitourinary anomalies | Horseshoe kidneys, hypoplasia of uterus and vagina | − | − | − | − | − | ND | Renal pelvis dilatation | − | − | − | − | − | Horseshoe kidney | − | − | ND | − | − | Horseshoe kidneys, hypoplasia of vagina | − | − | − | − | ND | ND | ND | − | − | − | (4/26) 15 |
| Cow’s milk intolerance and/or episodes of gastroenteritis | − | − | − | − | − | − | ND | − | + | − | + | − | + | − | ND | − | − | − | + | − | + | − | + | − | ND | ND | ND | + | + | ND | (8/24) 33 |
| Others | Sensorineural hearing loss | Rolando epilepsy | Hypothyro- idism | Frontal bossing, flat nasal bridge | Club feet | Death at 3 years | Sensorineural hearing loss | Cleft lip/palate, club feet | Sickle feet | Epilepsy | Facial haemangioma | ||||||||||||||||||||