Malignant osteopetrosis obscured by maternal vitamin D deficiency in a neonate

被引:0
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作者
D. Popp
B. Zieger
W. Nützenadel
F. Schaefer
A. Schmitt-Gräff
机构
[1] Department of Pediatrics,
[2] University of Heidelberg,undefined
[3] Heidelberg,undefined
[4] Germany,undefined
[5] Department of Pathology,undefined
[6] University of Freiburg,undefined
[7] Freiburg,undefined
[8] Germany,undefined
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关键词
Key words Malignant infantile osteopetrosis; Rickets; Neonate; Vitamin D deficiency; Abbreviations25OHD 25-Hydroxyvitamin D; 1,25(OH)2D 1,25-Dihydroxyvitamin D; PTH Parathyroid hormone; ALP Alkaline phosphatase;
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摘要
A neonate presented with clinical, biochemical, endocrine and radiographic features consistent with vitamin D deficiency rickets of maternal origin. Persistent hypocalcemia and subsequent development of pancytopenia, hemolysis and hepatosplenomegaly prompted further studies that led to the diagnosis of infantile osteopetrosis.
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页码:412 / 415
页数:3
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