Central nervous system calcification-deafness-tubular acidosis-anemia syndrome
Central nervous system calcification-deafness-tubular acidosis-anemia syndrome
Definition
This syndrome is characterized by progressive calcification of the brain and spinal cord, growth retardation, psychomotor anomalies, deafness and anemia. Renal tubular acidosis was found in one patient. To date, this syndrome has been described in only two patients from one family.
Also known as Yoshimura-Takeshita syndrome — per MONDO