Table 1 Summary of clinical findings and outcome in 18 patients with RS
|  | Ratio ± or m/f (number of patients with information) | Duprey and Steger [35] | Revesz et al. [16] | Kajtar and Mehes [36] | Riyaz et al. [39] | Scheinfeld et al. [23] | Negron et al. [38] | Savage and Bertuch [3] | Sasa et al. [20] | Asai et al. [34] | McElnea et al. [37] | Tamura et al. [40]# | Gupta et al. [17] | Gupta et al. [17] | Moussa et al. [18] | Tomcikova et al. [41] # | Watanabe et al. [42] | Sakwit et al. [19] | This report |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
Patient number | Â | 1 | 2 | 3 | 4 | 5 | 6 | 7 | 8 | 9 | 10 | 11 | 12 | 13 | 14 | 15 | 16 | 17 | 18 |
Gender (m/f) | 11/7 (18) | f | m | f | f | m | m | m | m | m | m | m | f | f | m | m | f | m | f |
Medical history | |||||||||||||||||||
Preterm | 4/12 (16) | – | – | – | – | – | – | ? | – | – | +  | – | +  | +  | ? | – | ? | ? | +  |
Small for gestational age | 9/6 (15) | +  | +  | +  | +  | – | +  | ? | – | +  | – | +  | – | – | ? | +  | +  | ? | – |
Failure to thrive | 6/4 (10) | +  | – | – | +  | – | – | ? | +  | ? | ? | ? | ? | ? | ? | ? | +  | +  | +  |
Neurologic findings | |||||||||||||||||||
Microcephaly | 6/5 (11) | +  | – | +  | +  | – | – | ? | +  | ? | ? | – | ? | ? | ? | – | +  | ? | +  |
Cerebellar hypoplasia | 13/4 (17) | – | +  | +  | ? | +  | – | +  | +  | – | +  | +  | +  | +  | +  | – | +  | +  | +  |
Cerebral calcifications | 11/2 (13) | +  | +  | – | ? | +  | +  | ? | ? | +  | ? | – | +  | +  | +  | +  | ? | +  | +  |
Ataxia | 4/5 (9) | – | +  | – | ? | – | – | ? | +  | ? | ? | +  | ? | ? | ? | – | ? | ? | +  |
Seizures | 3/14 (17) | +  | – | – | – | – | – | ? | – | – | – | – | – | – | – | – | – | +  | +  |
Neurodevelopmental delay | 12/5 (17) | +  | +  | – | +  | +  | – | +  | +  | – | +  | +  | – | – | +  | +  | ? | +  | +  |
Ophthalmologic findings | |||||||||||||||||||
Exudative retinopathy | 18/0 (18) | +  | +  | +  | +  | +  | +  | +  | +  | +  | +  | +  | +  | +  | +  | +  | +  | +  | +  |
Glaucoma | 3/11 (14) | – | – | +  | – | – | +  | ? | – | – | – | ? | – | – | – | +  | ? | – | ? |
Bone marrow failure | 18/0 (18) | +  | +  | +  | +  | +  | +  | +  | +  | +  | +  | +  | +  | +  | +  | +  | +  | +  | +  |
Dermatologic findings | |||||||||||||||||||
Irregular nails | 13/2 (15) | +  | – | +  | +  | +  | – | +  | +  | +  | +  | +  | ? | ? | +  | +  | ? | +  | +  |
Skin findings | 6/5 (11) | +  | +  | – | +  | – | – | +  | ? | – | ? | +  | ? | ? | ? | +  | ? | ? | – |
Leukoplakia | 6/8 (14) | – | – | +  | +  | – | – | +  | +  | – | – | – | ? | ? | ? | – | ? | +  | +  |
Fine, sparse hair | 4/4 (8) | – | +  | +  | +  | – | ? | ? | ? | ? | ? | – | ? | ? | ? | – | ? | ? | +  |
Therapy and outcome | |||||||||||||||||||
Stem cell transplantation | 8/12 (18) | No | No | Yes | No | No | No | Yes | Yes | Yes | No | Yes | No | No | Yes | No | Yes | No | Yes |
Last follow up (age/years) | – | 4 | 1.6 | 3.5 | 6 | 5 | 12 | 6.8 | 2.0 | 3.5 | 1.2 | 6.5 | 1.5 | 1.5 | 3.3 | 7 | 3.4 | 2.7 | 4.2 |
Alive | 10/6 (18) | Yes | No | Yes | No | Yes | No | No | No | Yes | Yes | No | Yes | Yes | Yes | Yes | Yes | No | No |
Genetic TINF2 alteration | 12/0 (12) | ? | ? | ? | ? | ? | ? | p.R282H | p.K280RfsX36 | p.R282H | p.R282H | p.R282H | p.T284P | p.T284P | p.R282H | p.P289S | p.R282H | p.T284Nfsx6 | p.R282H |