| . | Family A . | Family B . | Family C . | |||
|---|---|---|---|---|---|---|
| Case . | A-II-1 . | A-II-2 . | B-II-3 . | B-II-4 . | C-II-1 . | C-II-3 . |
| Ethnic origin | Afghanistan | Afghanistan | Saudi Arabia | Saudi Arabia | Netherlands | Netherlands |
| Consanguinity | Yes | Yes | Yes | Yes | No | No |
| IL6ST mutations (all homozygous) | c.841C>T; p.Arg281* | c.841C>T; p.Arg281* | c.841C>T;p.Arg281* | c.841C>T; p.Arg281* | c.1699+4A>G | c.1699+4A>G |
| Gender | Female | Female | Male | Male | Male | Female |
| Outcome | Termination of pregnancy | Death at day 2 | Early neonatal death (2–3 h) | Death in utero | Death at day 2 | Death at 6 yr |
| Major clinical phenotype | STWS | STWS | STWS | STWS | STWS | STWS |
| Clinical features | ||||||
| Bone manifestations | Limb bowing; severe deformities; growth defect | Limb bowing; growth defect | Bowed tubular bones | Short tubular bones | Bowing of legs; camptodactyly | Bowing of femora; restricted limb extension; camptodactyly; joint instability; severe scoliosis; short stature |
| Respiratory and dysautonomia symptoms | NA | Breathing difficulties; irreversible pulmonary hypertension; membranous disease in lungs; heart failure | NA | NA | Respiratory distress | Hyperthermia; hyporeflexia; motor delay; sucking and swallowing difficulties |
| Immune and hematologic phenotype | NA | No eczema; no eosinophilia; thrombocytopenia | NA | NA | NA | Eczema at age 1 yra |
| Other | Disseminated intravascular coagulation | Multicystic dysplastic right kidney; dilated cisterna magna; small chest | ||||
| Weight | NA | Birth (GA36+3): 1,734 g; z-score: −2.29 | NA | NA | Birth (GA 40+0): 2,700 g; z-score: −2.09 | Birth (GA 40+0): 2,995 g; z-score −1.13 |
| 2 8/12 yr: 8.9 kg; z-score: −2.33 | ||||||
| Height/length | NA | Birth (GA36+3): 36 cm; z-score: −4.77 | NA | NA | Birth 47 cm (GA 40); z-score: −2.39 | Birth (GA 40+0): 49 cm; z-score −1.23 |
| 2 8/12 yr: 78 cm; z-score: −3.91 | ||||||
| . | Family A . | Family B . | Family C . | |||
|---|---|---|---|---|---|---|
| Case . | A-II-1 . | A-II-2 . | B-II-3 . | B-II-4 . | C-II-1 . | C-II-3 . |
| Ethnic origin | Afghanistan | Afghanistan | Saudi Arabia | Saudi Arabia | Netherlands | Netherlands |
| Consanguinity | Yes | Yes | Yes | Yes | No | No |
| IL6ST mutations (all homozygous) | c.841C>T; p.Arg281* | c.841C>T; p.Arg281* | c.841C>T;p.Arg281* | c.841C>T; p.Arg281* | c.1699+4A>G | c.1699+4A>G |
| Gender | Female | Female | Male | Male | Male | Female |
| Outcome | Termination of pregnancy | Death at day 2 | Early neonatal death (2–3 h) | Death in utero | Death at day 2 | Death at 6 yr |
| Major clinical phenotype | STWS | STWS | STWS | STWS | STWS | STWS |
| Clinical features | ||||||
| Bone manifestations | Limb bowing; severe deformities; growth defect | Limb bowing; growth defect | Bowed tubular bones | Short tubular bones | Bowing of legs; camptodactyly | Bowing of femora; restricted limb extension; camptodactyly; joint instability; severe scoliosis; short stature |
| Respiratory and dysautonomia symptoms | NA | Breathing difficulties; irreversible pulmonary hypertension; membranous disease in lungs; heart failure | NA | NA | Respiratory distress | Hyperthermia; hyporeflexia; motor delay; sucking and swallowing difficulties |
| Immune and hematologic phenotype | NA | No eczema; no eosinophilia; thrombocytopenia | NA | NA | NA | Eczema at age 1 yra |
| Other | Disseminated intravascular coagulation | Multicystic dysplastic right kidney; dilated cisterna magna; small chest | ||||
| Weight | NA | Birth (GA36+3): 1,734 g; z-score: −2.29 | NA | NA | Birth (GA 40+0): 2,700 g; z-score: −2.09 | Birth (GA 40+0): 2,995 g; z-score −1.13 |
| 2 8/12 yr: 8.9 kg; z-score: −2.33 | ||||||
| Height/length | NA | Birth (GA36+3): 36 cm; z-score: −4.77 | NA | NA | Birth 47 cm (GA 40); z-score: −2.39 | Birth (GA 40+0): 49 cm; z-score −1.23 |
| 2 8/12 yr: 78 cm; z-score: −3.91 | ||||||
BW, birth weight; GA given in weeks + days; NA, not available. Z-scores of weight and length/height were calculated using Voigt et al. (2006) for fetuses and newborns and World Health Organization child growth standards (https://www.who.int/childgrowth/standards/en/) for C-II-3 in childhood.
No clinical records available.