{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2025,10,19]],"date-time":"2025-10-19T00:13:05Z","timestamp":1760832785644,"version":"build-2065373602"},"reference-count":3,"publisher":"BMJ","issue":"5","content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["J Med Genet"],"published-print":{"date-parts":[[1977,10]]},"abstract":"<jats:p>Two brothers with severe and rare lower limb malformations but normal upper limbs are described. Both brothers had glans hypospadias and they died in early infancy. In the first brother the limb malformation was a severe deformity of the right foot which was split and of rockerbottom shape with oligosyndactyly. In the second brother the right limb below the knee was more severely deformed while only the toes were involved in the left limb. Details of the clinical and pathological findings are described. The most likely mode of inheritance of this rare syndrome is autosomal recessive or X-linked recessive with variable expressivity.<\/jats:p>","DOI":"10.1136\/jmg.14.5.352","type":"journal-article","created":{"date-parts":[[2008,11,10]],"date-time":"2008-11-10T14:50:51Z","timestamp":1226328651000},"page":"352-354","source":"Crossref","is-referenced-by-count":20,"title":["Severe lower limb malformation associated with other deformities and death in infancy in two brothers."],"prefix":"10.1136","volume":"14","author":[{"given":"K","family":"Fried","sequence":"first","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"M D","family":"Goldberg","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"G","family":"Mundel","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"R","family":"Reif","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"239","published-online":{"date-parts":[[1977,10,1]]},"reference":[{"key":"ref_1","first-page":"5","article-title":"Bilateral absence of the tibias in three sibs. In Limb Malformations. Birth Defects: Original Article","volume":"10","author":"Emami-Ahari, Z.; Mahloudji, M.","year":"1974","unstructured":"Emami-Ahari, Z., and Mahloudji, M. (1974). Bilateral absence of the tibias in three sibs. In Limb Malformations. Birth Defects: Original Article Series 10, 5, pp. 197-200. The National Foundation-March of Dimes, New York.","journal-title":"Series"},{"key":"ref_2","first-page":"22","article-title":"The newly recognized genetic syndrome of tetramelic deficiencies, ectodermal dysplasia, deformed ears and other abnormalities","author":"Freire-Maia, N.","year":"1970","unstructured":"Freire-Maia, N. (1970). The newly recognized genetic syndrome of tetramelic deficiencies, ectodermal dysplasia, deformed ears and other abnormalities. American Journal of Human Genetics, 22,370-377.","journal-title":"American Journal of Human Genetics"},{"key":"ref_3","first-page":"5","article-title":"An unusual limb deformity in an inbred community. In Limb Malformations. Birth Defects: Original Article","volume":"10","author":"Mahloudji, M.; Farpour, H.","year":"1974","unstructured":"Mahloudji, M., and Farpour, H. (1974). An unusual limb deformity in an inbred community. In Limb Malformations. Birth Defects: Original Article Series 10, 5, pp. 75-80. The National Foundation-March of Dimes, New York.","journal-title":"Series"}],"container-title":["Journal of Medical Genetics"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/syndication.highwire.org\/content\/doi\/10.1136\/jmg.14.5.352","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2025,10,18]],"date-time":"2025-10-18T05:27:51Z","timestamp":1760765271000},"score":1,"resource":{"primary":{"URL":"https:\/\/jmg.bmj.com\/lookup\/doi\/10.1136\/jmg.14.5.352"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[1977,10]]},"references-count":3,"journal-issue":{"issue":"5","published-online":{"date-parts":[[1977,10,1]]},"published-print":{"date-parts":[[1977,10]]}},"alternative-id":["10.1136\/jmg.14.5.352"],"URL":"https:\/\/doi.org\/10.1136\/jmg.14.5.352","relation":{},"ISSN":["0022-2593","1468-6244"],"issn-type":[{"type":"print","value":"0022-2593"},{"type":"electronic","value":"1468-6244"}],"subject":[],"published":{"date-parts":[[1977,10]]}}}