Table 1 Main clinical features in the present series and comparison with the literature

From: Phenotype and genotype of 87 patients with Mowat–Wilson syndrome and recommendations for care

 

Our cohort 5,21,28;a

Literature 1,22 a, b

Total c

Gender (male:female)

45:42

138:119

183:161

Microcephaly

55/81 (67.9%)

189/233 (81.1%)

244/314 (77.7%)

Seizures

73/87 (83.9%)

168/220 (76.3%)

241/307 (78.5%)

Hirschsprung disease

26/85 (30.6%)

122/250 (48.8%)

148/335 (44.2%)

Constipationd

37/85 (43.6%)

53/225 (23.5%)

90/310 (29%)

Congenital heart defects

52/85 (61.2%)

141/247 (57.1%)

193/332 (58.1%)

Pulmonary artery sling

3/81 (3.7%)

6/185 (3.2%)

9/266 (3.4%)

Renal anomalies

22/84 (26.2%)

37/149 (24.8%)

59/233 (25.3%)

Genital anomalies

41/79 (51.9%)

64/165 (38.8%)

105/244 (43%)

Hypospadias

28/45 (62.2%)

43/74 (58.1%)

71/119 (59.7%)

Cryptorchidism

25/45 (55.6%)

26/78 (33.3%)

51/123 (41.5%)

Short stature

31/79 (39.2%)

39/72 (54.2%)

70/151 (46.4%)

Pyloric stenosis

3/83 (3.6%)

11/107 (10.3%)

14/190 (7.4%)

Structural eye anomalies

8/83 (9.6%)

14/138 (10.1%)

22/221 (9.9%)

Cleft palate

0/87 (0.0%)

4/140 (2.9%)

4/225 (1.8%)

  1. aAdditional references in upplementary File S1.
  2. bPatients with missense mutations in ZEB2 were not included.
  3. cOnly features for which we found precise information in the cited articles were considered.
  4. dWith absent or undetermined Hirschsprung disease.
Back to article page