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Table 1 Clinical features of three affected siblings

From: Functional modelling of a novel mutation in BBS5

  

Primary BBS features

     

Secondary BBS features

  

Age at presentation (years)

Post axial polydactyly

Retinal dystrophy

Renal anomalies

Learning difficulties

Hypogonadism

Obesity

Developmental delay

Congenital heart disease

Astigmatism

Affected female

9

Y

Ya

Yb

Y

n/a

Y

Y

N

Y

Affected female

7

Y

N

Yc

Y

n/a

Y

Y

VSD

N

Affected male

3

Y

N

N

Y

Y

Y

Y

VSD

N

  1. anight blindness and retinal dystrophy developed at aged 12.
  2. bdilatation of left renal pelvis.
  3. cbilateral small kidneys on USS. VSD, ventricular septal defect.
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ISSN: 2046-2530

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