{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2025,10,29]],"date-time":"2025-10-29T06:06:10Z","timestamp":1761717970518},"reference-count":28,"publisher":"Wiley","issue":"4","license":[{"start":{"date-parts":[[2005,6,2]],"date-time":"2005-06-02T00:00:00Z","timestamp":1117670400000},"content-version":"vor","delay-in-days":8219,"URL":"http:\/\/onlinelibrary.wiley.com\/termsAndConditions#vor"}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["Am. J. Med. Genet."],"published-print":{"date-parts":[[1982,12]]},"abstract":"<jats:title>Abstract<\/jats:title><jats:p>Radiologic evaluation of the skeleton and scanning electron microscopic studies of the teeth were performed on an infant boy with a lethal osteogenesis imperfecta (OI) syndrome who died at 10 mo of pneumonia. The skeletal findings included ribs that were focally expanded by fracture calluses, flat vertebral bodies, and wide limb bones. On fractured tooth surfaces, the enamel and dentin were normal as was the dentin calcification front. Although microscopic abnormalities have been noted in teeth from previously reported infants with lethal OI, a few studies also report infants with normal teeth. These differences in dental findings may indicate heterogeneity in OI lethal in infancy. Results of our study indicate that, until the primary biochemical defects in the OI syndromes are elucidated, examination of teeth from other infants with lethal OI and detailed evaluation of other clinical and skeletal features will aid in delineating heterogeneity and variation in expression in lethal OI.<\/jats:p>","DOI":"10.1002\/ajmg.1320130403","type":"journal-article","created":{"date-parts":[[2005,6,12]],"date-time":"2005-06-12T00:45:33Z","timestamp":1118537133000},"page":"359-368","source":"Crossref","is-referenced-by-count":4,"title":["Osteogenesis imperfecta lethal in infancy: Case report and scanning electron microscopic studies of the deciduous teeth"],"prefix":"10.1002","volume":"13","author":[{"given":"L. 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