Table 1 Diagnostic criteria for Bardet–Biedl syndrome (BBS)
Primary features | Case 1 | Case 2 | Case 3 | Case 4 | Secondary features | Case 1 | Case 2 | Case 3 | Case 4 |
|---|---|---|---|---|---|---|---|---|---|
Truncal obesity | + | + | + | + | Strabismus/cataract/astigmatism | − | − | + | + |
Retinitis pigmentosa/retinal dystrophy | + | + | + | + | Speech disorders/delay | − | − | − | − |
Polydactyly | + | + | + | + | Developmental delay | − | − | + | + |
Learning disabilities | + | − | + | + | Brachydactyly/syndactyly | − | − | − | − |
Renal malformations | + | + | − | − | Behavioral disorders | − | − | − | − |
Genital abnormalities (female) Hypogonadism (male) | + | − | − | − | Diabetes mellitus | − | + | + | − |
Polyuria/polydipsia (diabetes insipidus) | − | − | − | − | |||||
Left ventricular hypertrophy (LVH) Congenital cardiac abnormalities | + | + | − | − | |||||
Hepatic fibrosis | − | − | − | − | |||||
Anosmia | − | − | − | − | |||||
Craniofacial dysmorphic | − | − | − | − | |||||
Dental crowding/high-arched palate/hypodontia/small roots | − | − | − | − | |||||
Hirschsprung disease | − | − | − | − | |||||
Ataxia/poor coordination | − | − | − | − |