Table 3 The correlation between clinical features and IC2 LOM, IC1 GOM, and pUPD11 defects of the study cohort
IC2 LOM (n = 10) | IC1 GOM (n = 5) | pUPD11 (n = 1) | p-Value | |
|---|---|---|---|---|
Cardinal features | ||||
Macroglossia | 10/10 (100.0%) | 4/5 (80.0%) | 1/1 (100%) | NS |
Lateralized overgrowth | 1/10 (10.0%) | 3/5 (60.0%) | 0/1 (0%) | < 0.05 |
Exomphalos | 1/10 (10.0%) | 0/5 (0%) | 0/1 (0%) | NS |
Hyperinsulinism | 0/10 (0%) | 1/5 (20.0%) | 0/1 (0%) | NS |
Wilms tumor or nephroblastomatosisa | 0/10 (0%) | 0/1 (0%) | 0/1 (0%) | NS |
Suggestive features | ||||
Umbilical hernia and/or diastasis recti | 8/10 (80.0%) | 4/5 (80.0%) | 1/1 (100%) | NS |
Ear creases and/or pits | 5/10 (50.0%) | 2/5 (40.0%) | 0/1 (0%) | NS |
Nephromegaly and/or hepatomegaly | 3/10 (30.0%) | 3/5 (60.0%) | 0/1 (0%) | NS |
Facial naevus simplex | 5/10 (50.0%) | 2/5 (40.0%) | 0/1 (0%) | NS |
Birthweight > 2 SDS above the mean | 3/10 (30.0%) | 3/5 (60.0%) | 1/1 (100%) | NS |
Transient hypoglycaemia | 2/10 (20.0%) | 2/5 (40.0%) | 0/1 (0%) | NS |
Polyhydramnios | 1/10 (10.0%) | 2/5 (40.0%) | 0/1 (0%) | NS |
Typical BWS tumorsb | 0 /10 (0%) | 0/5 (0%) | 0/1 (0%) | NS |