PMID: 9643297Jun 27, 1998Paper

New lethal disease involving type I and III collagen defect resembling geroderma osteodysplastica, De Barsy syndrome, and Ehlers-Danlos syndrome IV

Journal of Medical Genetics
A JukkolaL Pajunen

Abstract

We describe the clinical findings and biochemical features of a male child suffering from a so far undescribed lethal connective tissue disorder characterised by extreme hypermobility of the joints, lax skin, cataracts, severe growth retardation, and insufficient production of type 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 stenosis. The aortic valve was translucent and insufficient. The clinical symptoms and signs, together with histological findings, suggested a collagen defect. Studies on both skin fibroblast cultures and the patient's serum showed reduced synthesis of collagen types I and III at the protein and RNA levels. The sizes of the mRNAs and newly synthesised proteins were normal, excluding gross structural abnormalities. These findings are not in accordance with any other collagen defect characterised so far.

References

Jan 1, 1979·American Journal of Medical Genetics·R LiskerJ Robles-Gil
Feb 16, 1978·Human Genetics·A G HunterM H Reed
Jan 1, 1990·Annual Review of Biochemistry·E Vuorio, B de Crombrugghe
Sep 1, 1988·Clinical and Experimental Dermatology·F M PopeD A Compston
Nov 1, 1985·European Journal of Pediatrics·J KunzeT Riebel
Dec 21, 1984·Nucleic Acids Research·H R LoidlJ C Myers
Sep 1, 1981·European Journal of Biochemistry·A R CooperB L Hogan

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Citations

Apr 5, 2008·Clinical Dysmorphology·Emma C KivuvaGlenda Sobey
Jul 9, 2011·American Journal of Medical Genetics. Part a·David L SkidmoreStephen P Robertson
Aug 28, 2004·Journal of Cutaneous Pathology·Deanna GuerraPaola Ferrari
Feb 6, 2020·Journal of Inherited Metabolic Disease·Clara Marco-MarínVicente Rubio
Aug 31, 2021·Frontiers in Cell and Developmental Biology·Eduardo J PatriarcaGabriella Minchiotti

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