1.
Saudi J Kidney Dis Transpl
; 24(3): 561-5, 2013 May.
Artigo
em Inglês
| MEDLINE
| ID: mdl-23640632
RESUMO
Carbonic anhydrase-II deficiency is an autosomal recessive disorder with a triad of cerebral calcification, osteopetrosis and renal tubular acidosis (often combined proximal and distal). Mental retardation, growth failure, complications of osteopetrosis and other features were all recorded in this syndrome. We present a case of an Iraqi male with all these features and a positive family history.