Carbonic Anhydrase II Deficiency: A Rare Autosomal Recessive... : Journal of Pediatric
Hematology/Oncology Carbonic Anhydrase II Deficiency: A Rare Autosomal Recessive …

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) …

Carbonic anhydrase (CA) II deficiency results in an uncommon type of autosomal recessive
sclerosing bone dysplasia with renal tubular acidosis and intracerebral calcification. We …

The association between osteopetrosis and renal acidosis is not accidental, but represents a
well-known syndrome with autosomal recessive transmission, due to carbonic anhydrase II …

Osteopetrosis with renal tubular acidosis and cerebral calcification was identified as a
recessively inherited syndrome in 1972. In 1983, we reported a deficiency of carbonic …

Four new Saudi Arabian cases of the carbonic anhydrase II deficiency syndrome from two
families are described. This autosomal recessive syndrome includes osteopetrosis with …

A 4-month-old infant with bronchiolitis was found to have hyperdense bones on chest
roentgenograms. The diagnosis of osteopetrosis was demonstrated by generalized …

Deficiency of carbonic anhydrase II (CA II) isoenzyme produces metabolic disorders of bone,
kidney and brain. In this report we describe the clinical, radiological, pathological and …

Carbonic anhydrase (CA) isoenzyme II deficiency—formerly called the syndrome of
osteopetrosis with renal tubular acidosis and cerebral calcification—is an autosomal …

Carbonic anhydrase II (CA II) deficiency in man is an autosomal recessive disorder manifest
by osteopetrosis, renal tubular acidosis, and cerebral calcification. Other features include …