Table 1 Review of clinical and molecular data from the present series and the literature.
Present study | Literature | TOTAL | |
|---|---|---|---|
Clinical data | |||
Sex ratio (F:M [missing data]) | 0.88 [0] | 0.96 [9] | 0.95 [9] |
Age (m ± SD [missing data]) | 23.6 ± 21.8 [2] | 15.6 ± 17.3 [114] | 18.3 ± 19.2 [116] |
Triada (%) | 12/48 (25.0) | 95/191 (49.7) | 107/239 (44.8) |
Dysplastic ear (%) | 34/49 (69.4) | 162/194 (83.5) | 196/243 (80.7) |
Thumb malformation (%) | 26/49 (53.1) | 150/202 (74.2) | 176/251 (70.1) |
Other malformation of upper limb (%) | 8/49 (16.3) | 22/201 (10.9) | 30/250 (12.0) |
Malformation of lower limb (%) | 21/48 (43.8) | 93/195 (47.7) | 114/243 (46.9) |
Ano-rectal malformation (%) | 30/48 (62.5) | 130/195 (66.7) | 160/243 (65.8) |
Deafness (%) | 32/49 (65.3) | 128/197 (65.0) | 160/246 (65.0) |
Kidney malformation (%) | 21/39 (53.8) | 81/191 (42.4) | 102/230 (44.3) |
Renal failure (%) | 19/48 (39.6) | 56/191 (29.3) | 75/239 (31.4) |
Genital anomalies (%) | 7/48 (14.6) | 27/198 (13.6) | 34/246 (13.8) |
Congenital heart defect (%) | 8/35 (22.9) | 37/196 (18.9) | 45/231 (19.5) |
Endocrine feature (%) | 11/43 (25.6) | 28/196 (14.3) | 39/239 (16.3) |
Ophthalmologic features (%) | 16/44 (36.4) | 29/194 (14.9) | 45/238 (18.9) |
Abnormal cranial nerveb (%) | 1/45 (2.2) | 9/185 (4.9) | 10/230 (4.3) |
Facial asymmetry (%) | 2/45 (4.4) | 7/185 (3.8) | 9/230 (3.9) |
Molecular data | |||
SALL1 variant located upstream or into the glutamine-rich region (%) | 14/40 (35.0) | 12/186 (6.5) | 26/226 (11.5) |
SALL1 variant located upstream the middle of the mutation hotspot (%) | 29/40 (72.5) | 80/186 (43.0) | 109/226 (48.2) |
SALL1 deletion (%) | 9/49 (18.4) | 19/205 (9.3) | 28/254 (11.0) |
