marble brain disease
Lab Metabolic acidosis, hyperchloremia, alkaline urine
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marble brain diseaseAn AR condition due to carbonic anhydrase II deficiency Clinical Mental and growth retardation, facial dysmorphia, dysodontogenesis, cerebral calcification with a 'veined' pattern, osteopetrosis, renal tubular acidosis, restrictive lung disease due to rib deformity Lab Metabolic acidosis, hyperchloremia, alkaline urine. Cf État marbre.
McGraw-Hill Concise Dictionary of Modern Medicine. © 2002 by The McGraw-Hill Companies, Inc.