Our patient: Double tetrasomy 8+18 mosaicism | Trisomy 8 mosaicism | Trisomy 18 mosaicism |
---|---|---|
Short stature | + | |
Small head | + | + |
Feeding problems | + | |
Developmental delay | + | + |
Deafness, conductive | + | |
High frontal hairline/prominent forehead | + | + |
Low-set/posteriorly rotated ears | + | + |
Crumpled ear helices | + | |
Narrow/atretic auditory canals | + | |
Middle ear abnormalities | + | |
Short palpebral fissures | + | |
Epicantic folds | + | |
Downslant | + | |
Broad nasal bridge | + | + |
Thin upper lip | + | |
Small chin | + | + |
Short neck | + | + |
Skin pigmentation anomalies | + | |
Overriding toes | + | |
Coarctatio aortae | + | |
Ventricular septal defect (VSD) | + | + |
Persistent ductus arteriosus (PDA) | + | + |
Retinitis pigment.-like findings in retina | + |