PubMed · 34853
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A Radu. [Advanced uremia].. https://pubmed.ncbi.nlm.nih.gov/34853/
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Vitamin D deficiency, because of prophylactic supplementation, has become a rare disorder in Switzerland and therefore is usually not considered in the clinical routine. In the few cases we could diagnose, the affected children either have been of East-Mediterranean origin with insufficient nutrition and vitamin supplementation, or were raised in families who, for philosophical or other reasons, refuse any "non-biological" measure including vitamin supplementation. For the orthopedic surgeon the challenging task is to screen out of the many children presented with physiologic gait "disturbance", bow-legs or flat feet the few children with true disorders. An important point is the history of vitamin D prophylaxis; in selected cases X-ray and laboratory findings are indicated. Finally the response to the treatment with vitamin D will confirm the diagnosis of rickets due to vitamin D deficiency.
In 1980 Sedaghatian described an Iranian infant who died shortly after birth. At autopsy, he was found to have subacute myocarditis, cortical necrosis of kidneys, and adrenal and pulmonary hemorrhage. His skeletal abnormalities included mild rhizomelic shortness of his limbs and platyspondylyl and "laciness" of the iliac wings. In 1987 Optiz et al. described another Iranian infant with a similar perinatal course and roentgenograms. This infant was born to first cousins, suggesting an autosomal recessive single gene defect. We report our findings of another infant with a lethal course.