{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2025,10,29]],"date-time":"2025-10-29T06:06:17Z","timestamp":1761717977662},"reference-count":18,"publisher":"Wiley","issue":"2","license":[{"start":{"date-parts":[[2005,6,8]],"date-time":"2005-06-08T00:00:00Z","timestamp":1118188800000},"content-version":"vor","delay-in-days":7190,"URL":"http:\/\/onlinelibrary.wiley.com\/termsAndConditions#vor"}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["Am. J. Med. Genet."],"published-print":{"date-parts":[[1985,10]]},"abstract":"<jats:title>Abstract<\/jats:title><jats:p>Complete ascertainment of lethal neonatal short\u2010limb chondrodysplasias was attempted in the West of Scotland for the period 1970\u20131983. Forty\u2010three cases were identified, representing a minimum incidence of 1 in 8,900. The differential diagnosis included 11 well\u2010delineated skeletal dysplasias, one case of warfarin embryopathy, and one apparently new condition with presumed autosomal recessive inheritance that has radiographic similarities to those of thanatophoric dysplasia (TD). In this series TD had an incidence of 1 in 42,221, which is consistent with new dominant mutation at a rate of 11.8 \u00b1 4.1 \u00d7 10<jats:sup>\u22126<\/jats:sup> mutations per gene per generation. Ultrasonic measurement of fetal long bone length was performed in eight subsequent pregnancies at risk. Five unaffected fetuses were predicted correctly and three affected fetuses were detected during the second trimester (one with rhizomelic chondrodysplasia punctata\u2014second trimester prenatal diagnosis not previously reported; one with achondrogenesis type II; and one with the new lethal condition).<\/jats:p>","DOI":"10.1002\/ajmg.1320220205","type":"journal-article","created":{"date-parts":[[2005,9,6]],"date-time":"2005-09-06T13:17:38Z","timestamp":1126012658000},"page":"243-253","source":"Crossref","is-referenced-by-count":65,"title":["Lethal neonatal chondrodysplasias in the west of scotland 1970\u20131983 with a description of a thanatophoric, dysplasialike, autosomal recessive disorder, glasgow variant"],"prefix":"10.1002","volume":"22","author":[{"given":"J. M.","family":"Connor","sequence":"first","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"R. A. C.","family":"Connor","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"E. M.","family":"Sweet","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"A. A. M.","family":"Gibson","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"W. J. A.","family":"Patrick","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"M. B.","family":"McNay","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"D. H. 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