Table 2.
Frequency of skeletal phenotypes in the 78 probands and their affected relatives in our series, compared to the literature [4–11]
| Patients from our study | Literature [4–11] | ||||
|---|---|---|---|---|---|
| Probands (N = 78) | Probands and relatives (N = 94) | Right and left | |||
| Right | Left | Right | Left | ||
| Hand | |||||
| Reduction defect of the thumbs | |||||
| Thenar hypoplasia | 22/78 (28.2) | 20/78 (25.6) | 23/94 (24.4) | 21/94 (22.3) | 34.2% |
| Thumb hypoplasia | 23/78 (29.5) | 26/78 (33.3) | 26/94 (27.7) | 30/94 (31.9) | 31.9% |
| Thumb agenesis | 17/78 (21.8) | 25/78 (32.1) | 18/94 (19.1) | 27/94 (28.7) | 32.3% |
| I-II syndactyly | 12/78 (15.4) | 11/78 (14.1) | 14/94 (14.9) | 12/94 (12.8) | 13.3% |
| First metacarpal agenesis | 4/78 (5.1) | 3/78 (3.8) | 4/94 (4.3) | 3/94 (3.2) | nd |
| Additional defect of the thumbs | |||||
| Triphalangeal thumb | 21/78 (26.9) | 19/78 (24.3) | 21/94 (22.3) | 20/94 (21.3) | 23.6% |
| Digitalised thumb | 5/78 (6.4) | 2/78 (2.6) | 5/94 (5.3) | 4/94 (4.3) | 31.9% |
| Bifid thumb | – | – | – | – | 5% |
| II–III syndactyly | 2/78 (2.6) | 3/78 (3.8) | 2/94 (2.1) | 3/94 (3.2) | nd |
| Carpal bones malformation | 3/78 (3.8) | 3/78 (3.8) | 5/94 (5.3) | 5/94 (5.3) | 35.3% |
| Forearm | |||||
| Radial defects | |||||
| Hypoplasia | 17/78 (21.8) | 17/78 (21.8) | 19/94 (20.2) | 20/94 (20.2) | 34.2% |
| Agenesis | 4/78 (5.1) | 8/78 (10.3) | 4/94 (4.3) | 8/94 (8.5) | 15.2% |
| Ulnar defects | – | 1/78 (1.3) | – | 1/94 (1.1) | nd |
| Radio-ulnar synostosis | 3/78 (3.8) | 5/78 (6.4) | 3/94 (3.2) | 5/94 (5.3) | nd |
| Limitation of pro-supination | 14/78 (17.9) | 16/78 (20.5) | 19/94 (20.2) | 20/94 (21.3) | 25.8% |
| Limitation of elbow mobility | 9/78 (11.5) | 12/78 (15.4) | 12/94 (12.8) | 14/94 (14.9) | nd |
| Arm | |||||
| Humeral hypoplasia | – | 1/78 (1.3) | – | 1/94 (1) | 32% |
| Phocomelia | 3/78 (3.8) | 4/78 (5.1) | 4/94 (4.3) | 5/94 (5.3) | 8.4 % |
| Shoulder | |||||
| Limitation of elbow mobility | 4/78 (5.1) | 5/78 (6.4) | 4/94 (4.3) | 5/94 (5.3) | 28.6% |
| Sloping shoulders | 20/78 (25.6) | 18/78 (23) | 20/94 (20.2) | 18/94 (19.1) | 7.5% |
| Clavicle defects | 8/78 (10.3) | 8/78 (10.3) | 10/94 (10.6) | 10/94 (10.6) | 31.6% |
| Muscular hypoplasia | 5/78 (6.4) | 5/78 (6.4) | 5/94 (5.3) | 5/94 (5.3) | 38.2% |
Numbers in brackets are expressed in percent
nd not determined