From: Clinical overview and outcome of the Stuve-Wiedemann syndrome: a systematic review
General features | ||
Sex ratio (n = 61) | M/F = 0.97 (NR: 8) | |
Reported consanguinity (n = 62) | 40/62 (65%) (NR: 7) | |
Affected relatives (n = 69) | 38/69 (55%) | |
Median age at report (25th–75th percentile) | 32 months (11.5–72 months) | |
Geographic origin (n = 69) | Europe 35/69 (51%) Middle East 22/69 (32%) Africa 8/69 (12%) South or central America 4/69 (6%) | |
Outcome | ||
Mortality rate (n = 69) | Total cohort: 32/69 (46%) | < 2 years: 29/69 (42%) ≥ 2 years: 3/31 (10%) |
Age at death (n = 32) | Median (25th–75th percentile): 7.5 months (3–18 months) | Repartition of death by age category: Neonatal period (< 1 month): 14/32 (44%) Infancy (1 month–2 years):15/32 (47%) Childhood (> 2 years): 3/32 (9%) |
Cause of death (n = 32) | Respiratory failure 14/32 (44%) Hyperthermic episode 9/32 (28%) Sudden death 2/32 (6%) Necrotizing enterocolitis 2/32 (6%) Post-operative 2/32 (6%) Not reported 3/32 (9%) | Cause of death by age category: Neonatal period: Respiratory failure or PAH: 10/14 Hyperthermic episode or sudden death: 1/14 Other cause: 3/14 Infancy: Respiratory failure or PAH: 2/15 Hyperthermic episode or sudden death: 10/15 Other cause: 3/15 Childhood: Respiratory failure or PAH: 2/3 Hyperthermic episode or sudden death: 0/15 Other cause: 1/3 |