Table 6
All clinical signs registered in two pairs of siblings in families VIII and IX with the disorder genetically linked to the BBS4 locus on chromosome 15
| Family | ||||
|---|---|---|---|---|
| VIII | IX | |||
| Sex | F | F | M | M |
| Age at examination (years) | 33 | 20 | 32 | 30 |
| H/W/BMI | 157/118/44 | 160/120/47 | 178/96/30 | 170/89/31 |
| Hypertension | + | − | + | + |
| Brachydactyly | + | + | + | + |
| Polydactyly | Foot | − | Hand | Hand |
| Spinal stenosis | − | − | + | − |
| Paraparesis | − | − | + | − |
| Dental anomalies | + | + | + | + |
| Mental retardation | +? | +? | − | − |
| Small genitalia | − | − | + | + |
| Irregular menstrual periods | + | + | ||
| Adenoma of hypophysis | − | − | + | − |
| Visual acuity | HM | HM | LP | HM |
| Nystagmus | − | − | + | + |
| Myopia | + | − | + | + |
| Cataract | + | + | − | + |
| Pale optic disc | + | + | + | + |
| Attenuated retinal vessels | + | + | + | + |
| Retinal bone spicules | (+) | − | ++ | ++ |
-
H = height (cm); W = weight (kg); BMI = body mass index; HM = hand movements; LP = light perception.
