TABLE 3.
Characteristics of patients categorized by familial phenotype
| Characteristics | All patients | Attenuated | Severe | Unclassified |
|---|---|---|---|---|
| Number of patients (%) | ||||
| Total | 87 | 45 (52) | 13 (15) | 29 (33) |
| Index patients | 25 (29) | 5 (11) | 8 (61) | 12 (41) |
| Relatives | 62 (71) | 40 (89) | 5 (38) | 17 (59) |
| Females | 42 (48) | 20 (44) | 6 (46) | 16 (55) |
| Index patients | 14 (56) | 2 (40) | 5 (63) | 7 (58) |
| Relatives | 28 (45) | 18 (45) | 1 (20) | 9 (53) |
| Major events | 32 (36) | 16 (36) | 9 (69) | 7 (24) |
| Index patients | 16 (64) | 3 (60) | 8 (100) | 5 (42) |
| Relatives | 16 (26) | 13 (33) | 1 (20) | 2 (12) |
| Characteristic facial features a | 36 (62) | 11 (46) | 9 (82) | 16 (70) |
| Index patients | 13 (72) | 0 | 6 (86) | 7 (78) |
| Relatives | 23 (58) | 11 (50) | 3 (75) | 9 (64) |
| Thin, translucent skin a | 21 (35) | 3 (12) | 9 (82) | 9 (38) |
| Index patients | 12 (60) | 1 (33) | 5 (71) | 6 (60) |
| Relatives | 9 (23) | 2 (9.1) | 4 (100) | 3 (21) |
| Easy bruising a | 29 (48) | 11 (44) | 7 (63) | 11 (46) |
| Index patients | 13 (65) | 2 (67) | 4 (57) | 7 (70) |
| Relatives | 16 (40) | 9 (41) | 3 (75) | 4 (29) |
| Clubfoot a | 7 (11) | 1 (3.8) | 4 (33) | 2 (8) |
| Index patients | 4 (18) | 0 | 2 (29) | 2 (18) |
| Relatives | 3 (7.3) | 1 (4.5) | 2 (40) | 0 |
| Years (range) | ||||
| Mean age at ascertainment | 41 (0–93) | 49 (2–93) | 21 (0–55) | 37 (0–73) |
| Index patients | 32 (2–70) | 43 (31–55) | 21 (12–30) | 35 (2–70) |
| Relatives | 45 (0–93) | 50 (2–93) | 22 (0–55) | 39 (0–73) |
| Mean age at the first major event or death b | 48 (12–93) | 58 (38–93) | 25 (12–55) | 51 (37–68) |
| Index patients | 36 (12–68) | 49 (41–54) | 22 (12–28) | 49 (37–68) |
| Relatives | 58 (18–93) | 60 (38–93) | 37 (18–55) | 58 (52–63) |
| Number of exposures (%) | ||||
| Total interventions | 172 | 72 (42) | 46 (27) | 54 (31) |
| Complications | 11 (6.4) | 4 (5.6) | 2 (4.3) | 5 (9.3) |
| Vascular procedures | 24 (14) | 11 (15) | 7 (15) | 6 (11) |
| Complications | 4 (17) | 1 (9.1) | 2 (29) | 1 (17) |
| Surgery of the abdomen | 39 (23) | 23 (32) | 6 (13) | 10 (19) |
| Complications | 4 (10) | 2 (8.7) | 0 | 2 (20) |
| Endoscopies | 24 (14) | 13 (18) | 1 (2.0) | 10 (19) |
| Complications | 0 | 0 | 0 | 0 |
| Orthopedic surgery | 33 (19) | 10 (14) | 16 (35) | 7 (13) |
| Complications | 1 (4.2) | 0 | 0 | 1 (14) |
| NANEE c procedures | 26 (15) | 6 (8.3) | 9 (20) | 11 (20) |
| Complications | 0 | 0 | 0 | 0 |
| Other procedures d | 26 (15) | 9 (13) | 7 (15) | 10 (19) |
| Complications | 2 (7.7) | 1 (11) | 0 | 1 (10) |
a
Percentages given in relation to the number of patients assessed for the attribute.
b
If no major events were reported for a deceased subject, the date of death was used in its stead. Living patients with no known major complications were disregarded.
c
Surgery and invasive diagnostic procedures of the neck, airways, nose, ears, or eyes.
d
Other procedures include cesarean section, male and female sterilization, phimosis surgery, lumbar puncture, bone marrow biopsy et cetera.