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Table 2 Clinical features compared within Chinese and French WDSTS patients

From: Description of the molecular and phenotypic spectrum of Wiedemann-Steiner syndrome in Chinese patients

  Chinese cohort (N = 16; %) French cohort (N = 33; %) (Ref. 11) P value
(χ2 test)
General information
 Gender F8 (50%)/M8 (50%) F11 (33%)/M22 (67%) 0.261
 Age at last examination (years) 1.5 to 25 3 to 36  
 Postnatal growth retardation (H) 12/16 (75%) 15/32 (47%) 0.064
 Postnatal growth retardation (W) 9/14 (64%) 11/30 (37%) 0..087
 Postnatal growth retardation (H + W) (HPO:0008897) 8/14 (57%) 9/30 (30%) 0.085
KMT2A variants 15 different variants 29 different variants 0,639
 Nonsense variants 6 8  
 Frameshift variants 6 12  
 Missense variants 2 8  
 Splicing variants 1 1  
Craniofacial features
 Microcephaly (HPO:0000252) 8/16 (50%) 10/30 (33%) 0.270
 Hypertelorism (HPO:0000316) 13/16 (81%) 21/32 (66%) 0.432
 Ptosis (HPO:0000508) 10/16 (63%) 5/32 (16%) 0.001
 Down-turned palpebral fissures (HPO:0000494) 12/16 (75%) 18/31 (58%) 0.252
 Wide nasal bridge (HPO:0000431) 10/16 (63%) 22/31 (71%) 0.555
 Long philtrum (HPO:0000343) 9/16 (56%) 20/32 (63%) 0.676
 Low set ears (HPO:0000368) 6/16 (38%) 15/30 (50%) 0.418
 Thin upper lip (HPO:0000219) 8/16 (50%) 24/32 (75%) 0.083
Skeletal anomalies
 Advanced bone age (HPO:0200001) 2/10 (20%) 7/15 (47%) 0.229
 Delayed bone age (HPO:0003799) 7/10 (70%) 5/15 (33%) 0.111
 Brachydactyly (HPO:0001156) 8/16 (50%) 9/29 (31%) 0.209
 Clinodactyly (HPO:0030084) 4/16 (25%) 6/28 (21%) 1.000
 Sacral dimple (HPO:0000960) 4/16 (25%) 8/25 (32%) 0.631
Hairiness
 Thick eyebrows (HPO:0000574) 6/16 (38%) 23/29 (79%) 0.005
 Long eyelashes (HPO:0000527) 15/16 (94%) 24/32 (75%) 0.239
 Hypertrichosis, cubiti (HPO:0000998) 7/16 (44%) 19/31 (61%) 0.252
 Hypertrichosis, back (HPO:0000998) 12/16 (75%) 21/31 (68%) 0.858
 Hypertrichosis, lower limbs (HPO:0000998) 8/16 (50%) 9/24 (38%) 0.433
Developmental and neurology
 Walking delay (HPO:0031936) 10/16 (63%) 19/31 (61%) 0.936
 Language delay (HP:0000750) 12/14 (86%) 24/30 (80%) 0.970
 Intellectual disability (HPO:0001249) 14/15 (93%) 33/33 (100%) 0.683
 Aggressive behavior (HPO:0000718) 4/16 (25%) 4/31 (13%) 0.525
Organic problems
 Strabismus (HPO:0000486) 3/14 (21%) 7/32 (22%) 1.000
 Hyperopia (HPO:0008499) 1/14 (7%) 9/32 (28%) 0.230
 Cardiac anomaly 3/16 (19%) 8/22 (36%) 0.412
 Feeding difficulties (HPO:0011968) 5/16 (31%) 20/31 (65%) 0.030
  1. F female, M male, H height, W weight, HPO Human phenotype ontology