Ehlers-Danlos syndrome type IV D: an autosomal recessive disorder.
Two siblings born to consanguineous parents are reported with typical clinical features of the Ehlers-Danlos syndrome type IV. However, their cultured skin fibroblasts synthesize and secrete procollagen type III in normal amounts and proportions. This is probably a new form of the Ehlers-Danlos syndrome with autosomal recessive inheritance classified as Ehlers-Danlos syndrome type IV D.
D001706:Biopsy; D002478:Cells, Cultured; D002648:Child; D002675:Child, Preschool; D002848:Chromatography, DEAE-Cellulose; D003241:Consanguinity; D004535:Ehlers-Danlos Syndrome / Q000235:genetics* / Q000378:metabolism / Q000473:pathology; D004591:Electrophoresis, Polyacrylamide Gel; D005260:Female; D005347:Fibroblasts / Q000378:metabolism; D005808:Genes, Recessive; D006801:Humans; D008297:Male; D010375:Pedigree; D011347:Procollagen / Q000378:metabolism; D012867:Skin / Q000473:pathology
D011347:Procollagen