title: A constitutional disorder of connective tissue suggesting a defect in collagen biosynthesis.
mesh_terms: D001706:Biopsy; D002648:Child; D002848:Chromatography, DEAE-Cellulose; D003094:Collagen / Q000096:biosynthesis*; D003095:Collagen Diseases / Q000000981:diagnostic imaging / Q000235:genetics / Q000378:metabolism*; D003239:Connective Tissue Cells; D003241:Consanguinity; D005347:Fibroblasts; D006801:Humans; D008297:Male; D011859:Radiography; D012867:Skin / Q000473:pathology; D012886:Skull / Q000000981:diagnostic imaging
chemical_list: D003094:Collagen