{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2025,9,19]],"date-time":"2025-09-19T11:06:55Z","timestamp":1758280015928},"reference-count":28,"publisher":"Wiley","issue":"3","license":[{"start":{"date-parts":[[2005,6,5]],"date-time":"2005-06-05T00:00:00Z","timestamp":1117929600000},"content-version":"vor","delay-in-days":5818,"URL":"http:\/\/onlinelibrary.wiley.com\/termsAndConditions#vor"}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["Am. J. Med. Genet."],"published-print":{"date-parts":[[1989,7]]},"abstract":"<jats:title>Abstract<\/jats:title><jats:p>A new lethal brittle bone disease is described in three patients with slender long bones, thin ribs, hypomineralized calvaria, and normal facial appearance. In spite of several limb fractures this syndrome can be differentiated from the lethal forms of osteogenesis imperfecta and is better related to the thin\u2010bone group of lethal dysplasias. Biochemical investigation of collagen from one of the patients by the use of gel electrophoresis and high\u2010pressure liquid chromatography analyses failed to demonstrate any evident defect in the structure of type I collagen chains. Nevertheless collagen extractability from the dermis was altered owing to an increase in the proportion of acid\u2010soluble material. Tritium\u2010proline labeling of cultured fibroblasts confirmed the reduction in total collagen synthesis. This was attributed to a lower type I and type III amount whereas type V collagen level was markedly increased in the cell layer. RNA analysis of the three collagen types with the appropriate cDNA probes confirmed the protein data.<\/jats:p><jats:p>Electron microscopic examination of bone and skin showed morphologically abnormal fibroblasts and osteoblasts with an abundant distended rough endoplasmic reticulum and an altered plasma membrane. Unexpected thin fibrils with a banding pattern and surrounding the type I fibrils were observed. They might represent type V collagen. We suggest that, in this patient, the moderate decrease in type I collagen amount is insufficient to account for the radiological findings and that type V collagen overproduction could play a role in the bone brittleness by interfering with the process of mineralization.<\/jats:p>","DOI":"10.1002\/ajmg.1320330304","type":"journal-article","created":{"date-parts":[[2005,6,12]],"date-time":"2005-06-12T03:05:12Z","timestamp":1118545512000},"page":"299-310","source":"Crossref","is-referenced-by-count":18,"title":["A new lethal brittle bone syndrome with increased amount of type V collagen in a patient"],"prefix":"10.1002","volume":"33","author":[{"given":"Jacky","family":"Bonaventure","sequence":"first","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Louise","family":"Zylberberg","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Lola","family":"Cohen\u2010Solal","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Jean\u2010Claude","family":"Allain","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Catherine","family":"Lasselin","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Pierre","family":"Maroteaux","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"311","published-online":{"date-parts":[[2005,6,5]]},"reference":[{"key":"e_1_2_1_2_1","doi-asserted-by":"publisher","DOI":"10.3109\/03008208609017469"},{"key":"e_1_2_1_3_1","doi-asserted-by":"publisher","DOI":"10.1016\/0003-2697(86)90534-8"},{"key":"e_1_2_1_4_1","doi-asserted-by":"crossref","first-page":"4445","DOI":"10.1016\/S0021-9258(18)61213-X","article-title":"A structural mutation of the collagen \u03b11(I) CB7 peptide in lethal perinatal osteogenesis imperfecta","volume":"262","author":"Bateman JF","year":"1987","journal-title":"J Biol Chem"},{"key":"e_1_2_1_5_1","doi-asserted-by":"publisher","DOI":"10.1038\/316363a0"},{"key":"e_1_2_1_6_1","doi-asserted-by":"publisher","DOI":"10.1016\/S0021-9258(18)89655-7"},{"key":"e_1_2_1_7_1","doi-asserted-by":"publisher","DOI":"10.1016\/0167-4889(86)90005-4"},{"key":"e_1_2_1_8_1","doi-asserted-by":"crossref","first-page":"555","DOI":"10.1016\/S0021-9258(18)89768-X","article-title":"Characterization of the tissue form of type V collagen from chick bone","volume":"260","author":"Broek DK","year":"1985","journal-title":"J Biol Chem"},{"key":"e_1_2_1_9_1","doi-asserted-by":"crossref","first-page":"42","DOI":"10.1097\/00003086-198109000-00007","article-title":"The morbid anatomy of the skeleton in osteogenesis imperfecta","volume":"159","author":"Bullough PG","year":"1981","journal-title":"Clin Orthop Rel Res"},{"key":"e_1_2_1_10_1","first-page":"56","volume-title":"International Medical Reviews, Pediatrics 5, Genetic and Metabolic Disease","author":"Byers PH","year":"1984"},{"key":"e_1_2_1_11_1","doi-asserted-by":"publisher","DOI":"10.1172\/JCI110815"},{"key":"e_1_2_1_12_1","doi-asserted-by":"publisher","DOI":"10.1073\/pnas.81.9.2791"},{"key":"e_1_2_1_13_1","first-page":"545","article-title":"Nanisme ingra\u2010ut\u00e9rin avec dysmorphies multiples. t\u011bte d'oiseau, fractures intraut\u00e9rines","volume":"20","author":"Graveleau D","year":"1973","journal-title":"Ann P\u00e9diatr"},{"key":"e_1_2_1_14_1","doi-asserted-by":"publisher","DOI":"10.1111\/j.1432-1033.1981.tb05293.x"},{"key":"e_1_2_1_15_1","doi-asserted-by":"publisher","DOI":"10.1007\/BF02388044"},{"key":"e_1_2_1_16_1","doi-asserted-by":"publisher","DOI":"10.1111\/j.1749-6632.1985.tb51171.x"},{"key":"e_1_2_1_17_1","first-page":"477","article-title":"Syndrome l\u00e9taux avec gracilit\u00e9 du squelette","volume":"45","author":"Maroteaux P","year":"1988","journal-title":"Arch Fr P\u00e9diatr"},{"key":"e_1_2_1_18_1","first-page":"235","article-title":"Les formes ant\u00e9natales de l'ost\u00e9ogen\u00e8se imparfaite. 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