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 |
a“BMI calculator” available on CDC (website www.cdc.gov) is used for BMI calculation