NEW LETHAL DISEASE INVOLVING TYPE-I AND TYPE-III COLLAGEN DEFECT RESEMBLING GERODERMA OSTEODYSPLASTICA, DE-BARSY-SYNDROME, AND EHLERS-DANLOS-SYNDROME-IV

We describe the clinical findings and biochemical features of a male c hild suffering from a so far undescribed lethal connective tissue diso rder characterised by extreme hypermobility of the joints, lax skin, c ataracts, severe growth retardation, and insufficient production of ty pe I and type III procollagens. His features are compared with Ehlers- Danlos type IV, De Barsy syndrome, and geroderma osteodysplastica, as these disorders show some symptoms and signs shared with our patient. The child died because of failure of the connective tissue structures joining the skull and the spine, leading to progressive spinal stenosi s. The aortic valve was translucent and insufficient. The clinical sym ptoms and signs, together with histological findings, suggested a coll agen defect. Studies on both skin fibroblast cultures and the patient' s serum showed reduced synthesis of collagen types I and III at the pr otein and RNA levels. The sizes of the mRNAs and newly synthesised pro teins were normal, excluding gross structural abnormalities. These fin dings are not in accordance with any other collagen defect characteris ed so far.