hrp0089p3-p039 | Bone, Growth Plate & Mineral Metabolism P3 | ESPE2018
, Tayfur Aslı Celebi
, Yılmaz Deniz
Introduction: The carbonic anhydrase II (CA II) deficiency syndrome is a rare autosomal recessive disorder associated with osteopetrosis, renal tubular acidosis (RTA), and cerebral calcification (CADS; autosomal recessive osteopetrosis type 3). Other features include visual and auditory impairment, short stature, a large cranial vault, history of multiple skeletal fractures, developmental delay and cognitive defects, anemia, splenomegaly and secondary erythropoiesis. We report...