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Table 3 Systemic involvement of 17 cases

From: Attention to renal involvement: report of 17 Joubert syndrome cases in children of a single center in China

Characteristic

No

%a

Neurological involvement

 Mental development lags

7

41

 Muscle strength and tension decreased

4

24

 Convulsions

4

24

 Apnea

2

12

Renal involvement

 End stage kidney disease (HD/PDb)

6(4/2)

35

 Hematuria

5

29

 Albuminuria

5

29

 Diffuse renal disease

4

24

 Renal cystic lesions

2

12

 Enhanced echogenicity in parenchyma

2

12

Facial defects

 Special facialfeatures, straight eyebrows

1

6

 Congenital cleft palate

1

6

Ocular abnormalities

 Drooping eyelids

2

12

 Limited eye movement

2

12

 Wide bilateral eye distance, low ear position

1

6

Limb abnormalities

 Polydactyly

1

6

 Ulnar skin tag on metacarpophalangeal joint

1

6

Liver involvement

 Liver function damage

2

12

 Liver enlargement, echo thickening

1

6

other

 Tongguan Palm

1

6

  1. aPercentages are calculated by individual for all variables
  2. bHD/PD: Hemodialysis/Peritoneal dialysis