Congenital lethal metaphyseal chondrodysplasia: a newly recognized complex autosomal recessive disorder.
This is a report of two brothers, born within a year of each other, with a similar skeletal disorder of severe congenital metaphyseal involvement, mild rhizomelic shortness of upper limbs, and mild platyspondyly. Both died at three days of cardio-respiratory insufficiency, but only one had ante-mortem lab tests which showed low calcium, high phosphorus, and high alkaline phosphatase levels attributed to a renal defect. On autopsy this same infant was found to have pulmonary, renal and adrenal hemorrhage, and subendocardial myocarditis and myocardial necrosis. The pathogenetic relationship between these manifestations is presently unclear; however, since parents are normal and recently had an affected baby girl, it is presumed that this disorder is an autosomal recessive trait.
D001848:Bone Diseases, Developmental / Q000235:genetics*; D005260:Female; D005804:Genes, Lethal; D005808:Genes, Recessive; D006333:Heart Failure / Q000235:genetics; D006470:Hemorrhage / Q000235:genetics; D006801:Humans; D007231:Infant, Newborn; D008297:Male; D012131:Respiratory Insufficiency / Q000235:genetics