Case 1 in this study | Case 2 in this study | Patient 1* | 21230** | 20960** | 518240** | ||
---|---|---|---|---|---|---|---|
Major BOR criteria | Hearing loss/impairment | + | NA | + | - | + | + |
Branchial fistulae | + | NA | + | + | + | + | |
Preauricular pits | + | NA | + | + | - | + | |
Hydronephrosis/kidney agenesis | + | NA | + | + | - | + | |
Minor BOR criteria | Ear anomalies or ear symptoms (cup ear, low-set ear, asymmetry ear) | + | + | + | + | + | - |
Dysmorphic facial features | High arched palate | Macrocephaly, high arched palate, short neck, wide spaced eyes, and flat occiput | Left-sided microphthalmos with iris coloboma | Small mouth, branchial tag | - | - | |
Non-BOR related abnormalities | Intellectual disability/developmental delay | - | NA | + | - | - | - |
Speech/language delay | + | NA | + | - | - | - | |
Short stature | - | Proportional short stature | Proportional short stature | - | - | - |