Table 5 Non-orthopedic manifestations described in the total cohort and in the two subgroups (< and ≥ 2 years)
From: Clinical overview and outcome of the Stuve-Wiedemann syndrome: a systematic review
Total cohort (n = 69) | ≥ 2 years (n = 31) | < 2 years (n = 38) | |||||||
|---|---|---|---|---|---|---|---|---|---|
Yes | No | NR | Yes | No | NR | Yes | No | NR/NA | |
Temperature control | |||||||||
Hyperthermia | 58 (84%) | 5 | 6 | 31 (100%) | – | – | 27 (71%) | 5 | 6 |
Hypothermia | 7 (11%) | 6 | 56 | 6 (19%) | 6 | 19 | 1 (3%) | – | 37 |
Poor temperature regulation | 32 (46%) | – | 37 | 28 (90%) | – | 3 | 4 (11%) | – | 34 |
Excessive/paradoxical sweating | 33 (48%) | 4 | 32 | 26 (83%) | 2 | 3 | 7 (18%) | 2 | 29 |
Cardio-respiratory manifestations | |||||||||
Respiratory distress | 56 (81%) | 4 | 9 | 24 (77%) | 4 | 3 | 32 (84%) | – | 6 |
PAH | 8 (12%) | – | 61 | 1 (3%) | – | 30 | 7 (18%) | – | 31 |
Ocular manifestations | |||||||||
Hypolacrimation | 13 (19%) | 6 | 50 | 8 (26%) | 2 | 21 | 5 (13%) | 4 | 29 |
Corneal opacities | 18 (26%) | 9 | 42 | 14 (45%) | 4 | 12 | 3 (8%) | 5 | 30 |
Absent corneal reflex | 19 (28%) | 8 | 42 | 15 (48%) | 6 | 10 | 4 (10%) | 2 | 32 |
Stomatological manifestations | |||||||||
Smooth tongue | 21 (30%) | 1 | 47 | 19 (61%) | – | 12 | 2 (5%) | 1 | 35 |
Tongue injury | 17 (25%) | 3 | 49 | 15 (48%) | 2 | 14 | 2 (5%) | 1 | 35 |
Poor dentition | 22 (32%) | 3 | 44 | 22 (71%) | 3 | 6 | – | – | 38 |
Neurological manifestations | |||||||||
Swallowing trouble | 58 (84%) | 3 | 8 | 30 (97%) | – | 1 | 28 (74%) | 3 | 7 |
Abnormal perception of pain | 30 (44%) | 2 | 37 | 24 (77%) | 2 | 5 | 6 (16%) | – | 32 |
Trismus or myotonia | 19 (28%) | 17 | 33 | 11 (36%) | 8 | 12 | 8 (21%) | 9 | 21 |
Hypotonia | 41(59%) | 1 | 27 | 14 (45%) | – | 17 | 27 (71%) | 1 | 10 |
Hyporeflexia | 10 (15%) | 11 | 48 | 8 (26%) | 8 | 15 | 2 (5%) | 3 | 33 |
Delayed motor skills | 28 (41%) | – | 41 | 26 (84%) | – | 5 | 2 (5%) | – | 36 |
Normal cognitive level | 25 (36%) | 1 | 43 | 24 (77%) | 1 | 6 | 1 (3%) | – | 37 |
Seizure | 11 (16%) | 8 | 50 | 5 (16%) | 3 | 23 | 6 (16%) | 5 | 27 |