{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,4,28]],"date-time":"2026-04-28T22:58:00Z","timestamp":1777417080636,"version":"3.51.4"},"reference-count":1,"publisher":"BMJ","issue":"3","content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["J Med Genet"],"published-print":{"date-parts":[[1975,9]]},"abstract":"<jats:p>A family survey of 337 patients with congenital vertebral anomalies has been carried out from the Scoliosis Clinics of Edinburgh and the Royal National Orthopaedic Hospital, London. From genetic and epidemiological evidence it is clear that multiple vertebral anomalies (without apparent spina bifida) are aetiologically related to anencephaly and spina bifida cystics, carrying a 5-10% risk to subsequent sibs for any one of these defects. The implications for prenatal diagnosis are discussed. Solitary hemivertebrae and localized anterior defects of the vertebral bodies causing kyphoscoliosis are sporadic (non-familial) in nature, carrying no risk to subsequent sibs.<\/jats:p>","DOI":"10.1136\/jmg.12.3.280","type":"journal-article","created":{"date-parts":[[2008,11,10]],"date-time":"2008-11-10T14:50:51Z","timestamp":1226328651000},"page":"280-288","source":"Crossref","is-referenced-by-count":173,"title":["Congenital vertebral anomalies: aetiology and relationship to spina bifida cystica."],"prefix":"10.1136","volume":"12","author":[{"given":"R","family":"Wynne-Davies","sequence":"first","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"239","published-online":{"date-parts":[[1975,9,1]]},"reference":[{"key":"ref_1","article-title":"Anterior vertebral body defects. The deformity resulting from anterior defects of the vertebral bodies is kyphoscoliosis-the term being used precisely to mean a true kyphosis as well as a lateral curvature of the spine (James, 1955; Winter et al, 2. Segmental defects ofthe vertebral bodies","volume-title":"There may be partial or complete absence These vary from a single hemivertebrae (Fig. 3) to of one vertebral body (Fig. 6), fusion of two or three multiple defects over the whole length of the spine","year":"1973","unstructured":"Anterior vertebral body defects. The deformity resulting from anterior defects of the vertebral bodies is kyphoscoliosis-the term being used precisely to mean a true kyphosis as well as a lateral curvature of the spine (James, 1955; Winter et al, 2. Segmental defects ofthe vertebral bodies. 1973). There may be partial or complete absence These vary from a single hemivertebrae (Fig. 3) to of one vertebral body (Fig. 6), fusion of two or three multiple defects over the whole length of the spine. (Fig. 7), or a combination of these. It is character-"}],"container-title":["Journal of Medical Genetics"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/syndication.highwire.org\/content\/doi\/10.1136\/jmg.12.3.280","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2025,10,5]],"date-time":"2025-10-05T17:58:17Z","timestamp":1759687097000},"score":1,"resource":{"primary":{"URL":"https:\/\/jmg.bmj.com\/lookup\/doi\/10.1136\/jmg.12.3.280"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[1975,9]]},"references-count":1,"journal-issue":{"issue":"3","published-online":{"date-parts":[[1975,9,1]]},"published-print":{"date-parts":[[1975,9]]}},"alternative-id":["10.1136\/jmg.12.3.280"],"URL":"https:\/\/doi.org\/10.1136\/jmg.12.3.280","relation":{},"ISSN":["0022-2593","1468-6244"],"issn-type":[{"value":"0022-2593","type":"print"},{"value":"1468-6244","type":"electronic"}],"subject":[],"published":{"date-parts":[[1975,9]]}}}