{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2025,10,18]],"date-time":"2025-10-18T06:10:32Z","timestamp":1760767832172,"version":"build-2065373602"},"reference-count":2,"publisher":"BMJ","issue":"6","content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["J Med Genet"],"published-print":{"date-parts":[[1978,12]]},"DOI":"10.1136\/jmg.15.6.487","type":"journal-article","created":{"date-parts":[[2008,11,10]],"date-time":"2008-11-10T14:50:51Z","timestamp":1226328651000},"page":"487.1-487","source":"Crossref","is-referenced-by-count":0,"title":["Predisposition to spina bifida."],"prefix":"10.1136","volume":"15","author":[{"given":"P A","family":"Stanway","sequence":"first","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"I M","family":"Samloff","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"C J","family":"Brace","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"J H","family":"Renwick","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"C J","family":"Schorah","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"239","published-online":{"date-parts":[[1978,12,1]]},"reference":[{"key":"ref_1","doi-asserted-by":"crossref","first-page":"332","DOI":"10.1136\/jmg.14.5.332","article-title":"Predisposition to spina bifida: search for a relation to maternal gastric acid secretion","volume":"14","author":"Stanway, P.A.; Samloff, I.M.; Brace, C.J.; Renwick, J.H.","year":"1977","unstructured":"Stanway, P. A., Samloff, I. M., Brace, C. J., and Renwick, J. H. (1977). Predisposition to spina bifida: search for a relation to maternal gastric acid secretion. Journal ofMedical Genetics, 14, 332-334.","journal-title":"Journal ofMedical Genetics"},{"key":"ref_2","first-page":"430","article-title":"described \"A 'new' syndrome of mental retardation with characteristic facies and brachyphalangy\"","volume-title":"of the December 1977 issue of this journal. I wonder if I might tentatively suggest that this is not a new syndrome but a variant of the trichorhinophalangeal syndrome. The photographs of the affected individuals, published in their report, show the characteristic pear shaped noses and early balding which are features of this syndrome. The x-ray changes in the hands show coning of the epiphyses and the affected individuals also had shortness of stature, mild mental retardation, and dominant inheritance with variable expression, all of which are features of the trichorhinophalangeal syndrome","author":"SIR, Dr Hunter","unstructured":"SIR, Dr Hunter et al. described \"A 'new' syndrome of mental retardation with characteristic facies and brachyphalangy\" on page 430 of the December 1977 issue of this journal. I wonder if I might tentatively suggest that this is not a new syndrome but a variant of the trichorhinophalangeal syndrome. The photographs of the affected individuals, published in their report, show the characteristic pear shaped noses and early balding which are features of this syndrome. The x-ray changes in the hands show coning of the epiphyses and the affected individuals also had shortness of stature, mild mental retardation, and dominant inheritance with variable expression, all of which are features of the trichorhinophalangeal syndrome."}],"container-title":["Journal of Medical Genetics"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/syndication.highwire.org\/content\/doi\/10.1136\/jmg.15.6.487","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2025,10,18]],"date-time":"2025-10-18T05:30:01Z","timestamp":1760765401000},"score":1,"resource":{"primary":{"URL":"https:\/\/jmg.bmj.com\/lookup\/doi\/10.1136\/jmg.15.6.487"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[1978,12]]},"references-count":2,"journal-issue":{"issue":"6","published-online":{"date-parts":[[1978,12,1]]},"published-print":{"date-parts":[[1978,12]]}},"alternative-id":["10.1136\/jmg.15.6.487"],"URL":"https:\/\/doi.org\/10.1136\/jmg.15.6.487","relation":{},"ISSN":["0022-2593","1468-6244"],"issn-type":[{"type":"print","value":"0022-2593"},{"type":"electronic","value":"1468-6244"}],"subject":[],"published":{"date-parts":[[1978,12]]}}}