Molecular abnormalities of collagen.

Many inherited abnormalities of collagen are likely and may be listed under the following headings as proved, probable, or possible. Proved Ehlers-Danlos syndrome (EDS) (types III, IV, V, VI, VII); osteogenesis imperfecta (broadboned type); thanatophoric dwarfism; dermatosparaxis (animal equivalent of EDS VII); blotchy mice (animal equivalent of EDS V). Probable Marfan syndrome; pseudoxanthoma elasticum (some types); epidermolysis bullosa (some types). Possible Progeria; Werner's syndrome; neurofibromatosis; mongolism. Known defects have affected either collagen crosslinking or production of types I and III. Basement membrane defects await identification. Molecular abnormalities of collagen have been convincingly shown in several types of Ehlers-Danlos syndrome.