Table 2 Comparison between our index patient and his cousin
From: Bardet-Biedl syndrome with end-stage kidney disease in a four-year-old Romanian boy: a case report
Index patient | His cousin |
|---|---|
Nystagmus in early infancy | Nystagmus and photodysphoria in early infancy |
Rod-cone dystrophy, diagnosed at three years of age | Progressive pigmentary retinopathy (rod-cone dystrophy) leading to blindness |
Post-axial polydactyly, hexadactyly of the fifth finger in one hand and foot | No light perception by age 14 years |
Mild central obesity | Normal extremities/absence of polydactyly or syndactyly |
Hypogonadism and hypogenitalism | No childhood obesity, normal weight in adulthood |
Renal dysfunction (end-stage renal disease) diagnosed at age 4 | Normal genitalia |
Mental retardation | Progressive chronic nephropathy, chronic renal failure |
One sister with a similar phenotype, but without renal impairment at 14 years of age | Normal intelligence |
| Â | Mild to moderate bilateral sensorineural hearing loss |
| Â | Congestive heart failure secondary to dilated cardiomyopathy in early adulthood (severe) |
| Â | Hyperinsulinemia/insulin resistance |
| Â | Non-insulin dependent diabetes mellitus developed in early adolescence |
| Â | Elevation of hepatic enzymes |
| Â | Hepatic steatosis |
| Â | Hepatic dysfunction |
| Â | Alopecia |
| Â | Low levels of growth hormone |
| Â | Short stature |
| Â | Advanced bone age |
| Â | Hypertension |
| Â | Hyperlipidemia |
| Â | Hypertriglyceridemia |
| Â | Atherosclerotic disease (aorta) |
| Â | Hyperuricemia |
| Â | Hypersecretory lungs |
| Â | One brother who died in infancy with signs and symptoms suggestive for cardiac failure |