Clinical finding | Proband III.6 | Proband’s sibs | Proband’s cousins | ||||||
---|---|---|---|---|---|---|---|---|---|
III.3 | III.8‡ | III.10 | III.11 | III.12‡ | |||||
Age | 11 y | 17 y | 4 mth | 5 y | 3 y | 1 y | |||
Sex | F | F | M | F | M | F | |||
Obesity | + | + | ? | + | + | + | |||
Bilateral hexadactyly | |||||||||
Hands | ++ | ++ | ++ | ++ | ++ | ++ | |||
Feet | +L | ++ | ++ | +L | +R | ++ | |||
Mental retardation | + | + | ? | + | ? | ? | |||
Pigmentary retinopathy | + | Blind | ? | + | + | ? | |||
Nystagmus | − | + | − | − | − | − | |||
Hypogonadism | ? | ? | ? | ? | + | ? | |||
Renal anomalies1-150 | − | − | Atrophied left kidney | − | − | − | |||
Cardiac defects† | VSD | − | − | − | VSD | − | |||
Hirsutism | + | + | − | − | − | − |
? = not assessed, L = left side, R = right side, + = present, − = absent.
↵1-150 Diagnosed by abdominal ultrasonography. †Diagnosed by echocardiography. ‡Under 2 years of age it is difficult to evaluate night blindness, and developmental delay is usually mild so that the diagnosis is based on the existence of polydactyly.14