Table 1

Investigation of the new osteopetrotic patient

Full blood count, urea and electrolytes, Ca2+, PO4 2−, blood gas
 Feeding assessment
Skeletal survey including skull views
Tissue typing of child and family
Ophthalmological assessment including VEPs and electroretinography
Hearing assessment
Neurological/developmental assessment
Cardiac assessment
Consider magnetic resonance imaging of brain
Consider computed tomography of optic foramina