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Table 2 Other clinical manifestations of the children (Case 1 and Case 2) and healthy parents

From: A novel missense mutation in the CLCN7 gene linked to benign autosomal dominant osteopetrosis: a case series

Test

Case 1

Case 2

Mother

Father

Electroencephalography

N

N

N

N

Audiology

Right otitis media

N

N

N

Ophthalmology

Bilateral optic atrophy

Visual acuity = 6 out of 36

N

N

Spleen

19cm enlarged

N

N

N

Liver

17cm enlarged

N

N

N

Height

117cm (<3rd centile)

N

N

N

Weight

23kg (<3rd centile)

N

N

N

  1. N, Normal state.