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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
  Mild to moderate bilateral sensorineural hearing loss
  Congestive heart failure secondary to dilated cardiomyopathy in early adulthood (severe)
  Hyperinsulinemia/insulin resistance
  Non-insulin dependent diabetes mellitus developed in early adolescence
  Elevation of hepatic enzymes
  Hepatic steatosis
  Hepatic dysfunction
  Alopecia
  Low levels of growth hormone
  Short stature
  Advanced bone age
  Hypertension
  Hyperlipidemia
  Hypertriglyceridemia
  Atherosclerotic disease (aorta)
  Hyperuricemia
  Hypersecretory lungs
  One brother who died in infancy with signs and symptoms suggestive for cardiac failure
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