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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.