Table 1 Clinical description of BBS features presented by both patients
Affected male (IV-4) | Affected female (IV-5) | |
|---|---|---|
Anthropometric data | ||
Age | 20 Years | 18 Years |
Height | 5 feet 2 inch | 4 feet 10 inch |
Weight | 75 Kg | 65 Kg |
BMIa | 30.2 (Obese) | 30.9 (Obese) |
Major BBS phenotypes | ||
Retinal degeneration | Yes | Yes |
Polydactyly | Yes | Yes |
Obesity | Yes | Yes |
Developmental delay | Yes | Yes |
Hypogonadism | No | No |
Renal abnormality | Yes | Yes |
Minor BBS phenotypes | ||
Speech disability | Yes | Yes |
Strabismus, cataract, astigmatism | Yes | No |
Brachydactyly, syndactyly | Yes | Yes |
Diabetes mellitus | No | No |
Ataxia, imbalance | No | No |
Mild spasticity | No | No |
Dental anomaly | No | No |
Heart problems | No | No |
Liver disorders | No | |
Hearing Loss | No | Yes |
Gastro-intestinal complications | Digestion problem | Digestion problem |
Dermatologic issues | No | No |
Menstruation in female | - | Irregular |