{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2025,10,19]],"date-time":"2025-10-19T00:18:19Z","timestamp":1760833099254,"version":"build-2065373602"},"reference-count":15,"publisher":"BMJ","issue":"10","content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["J Med Genet"],"published-print":{"date-parts":[[1987,10]]},"abstract":"<jats:p>A male child with tetra-amelia, hypotrichosis, upward slanting palpebral fissures, lack of lacrimal openings, hypoplastic lacrimal ducts and sacs opening towards the exterior, prominent and bulbous nose, large downturned mouth, high narrow palate, bilateral preauricular pits, sacral dimple, bilateral undescended testes, and developmental retardation is reported. The parents were second cousins. His karyotype on cultured blood lymphocytes was normal. Since the next fetus conceived by the mother was found on prenatal ultrasonography to have no limbs, abortion was induced. The face of the abortus closely resembled that of the proband. It is postulated that this malformation syndrome was due to the homozygous state of a rare autosomal recessive mutation.<\/jats:p>","DOI":"10.1136\/jmg.24.10.609","type":"journal-article","created":{"date-parts":[[2008,11,10]],"date-time":"2008-11-10T15:09:16Z","timestamp":1226329756000},"page":"609-612","source":"Crossref","is-referenced-by-count":18,"title":["Association of tetra-amelia, ectodermal dysplasia, hypoplastic lacrimal ducts and sacs opening towards the exterior, peculiar face, and developmental retardation."],"prefix":"10.1136","volume":"24","author":[{"given":"S","family":"Ohdo","sequence":"first","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"H","family":"Madokoro","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"T","family":"Sonoda","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"M","family":"Takei","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"H","family":"Yasuda","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"N","family":"Mori","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"239","published-online":{"date-parts":[[1987,10,1]]},"reference":[{"first-page":"947","year":"1971","key":"ref_1","unstructured":"Chicago: Year Book Medical Publishers. 1971: 947-57."},{"issue":"43","key":"ref_2","first-page":"1202","article-title":"Congenital skeletal limb deficiencies","volume":"1961","author":"R, Frantz C.H.O.'Rahlly","unstructured":"Frantz CH. O'Rahlly R. Congenital skeletal limb deficiencies. J Bone Joint Surg (Am) 1961;43:1202-24.","journal-title":"J Bone Joint Surg (Am)"},{"key":"ref_3","doi-asserted-by":"crossref","first-page":"511","DOI":"10.2106\/00004623-196547030-00007","article-title":"Total amelia","volume":"47","author":"Dresher, C.S.; Macdonell, J.A.","year":"1965","unstructured":"Dresher CS, Macdonell JA. Total amelia. J Bone Joint Surg (Am) 1965;47:511-6.","journal-title":"J Bone Joint Surg (Am)"},{"key":"ref_4","doi-asserted-by":"crossref","first-page":"412","DOI":"10.1007\/BF00441792","article-title":"Tetra-amelia with multiple malformations in six male fetuses of one kindred","volume":"144","author":"Zimmer, E.Z.; Taub, E.; Sova, Y.","year":"1985","unstructured":"Zimmer EZ, Taub E, Sova Y, et al. Tetra-amelia with multiple malformations in six male fetuses of one kindred. Eur J Pediatr 1985;144:412-4.","journal-title":"Eur J Pediatr"},{"key":"ref_5","first-page":"95","article-title":"Reduction limb defects in Finland","volume-title":"Prevention of physical and mental contgenital defects. Part C. Basic and medical science, education, and future strategies","author":"Aro, T.","year":"1985","unstructured":"Aro T. Reduction limb defects in Finland. In: Marois M, ed. Prevention of physical and mental contgenital defects. Part C. Basic and medical science, education, and future strategies. New York: Alan R Liss, 1985:95-7."},{"key":"ref_6","doi-asserted-by":"crossref","first-page":"922","DOI":"10.1111\/j.1471-0528.1953.tb07302.x","article-title":"Review of the literature and report of a case","volume":"60","author":"Amelia, Poidevin L.O.S.","year":"1953","unstructured":"Poidevin LOS. Amelia. Review of the literature and report of a case. J Obstet Gynaecol Br Empire 1953;60:922-5.","journal-title":"J Obstet Gynaecol Br Empire"},{"key":"ref_7","first-page":"117","article-title":"Un caso de 'amelio'","volume":"12","author":"RG, Garcia Otero","year":"1944","unstructured":"Garcia Otero RG. Un caso de 'amelio'. Rev Clin Esp 1944;12:117-24.","journal-title":"Rev Clin Esp"},{"issue":"181","key":"ref_8","first-page":"590","article-title":"Congenital skeletal deficiencies of the extremities","volume":"1962","author":"Hall, C.B.; Brooks, M.B.; Dennis, J.F.","unstructured":"Hall CB, Brooks MB, Dennis JF. Congenital skeletal deficiencies of the extremities. JAMA 1962;181:590-9.","journal-title":"JAMA"},{"key":"ref_9","first-page":"370","article-title":"A newly recognized genetic syndrome of tetramelic deficiencies, ectodermal dysplasia, deformed ears, and other abnormalities","volume":"22","author":"Freire-Maia, N.","year":"1970","unstructured":"Freire-Maia N. A newly recognized genetic syndrome of tetramelic deficiencies, ectodermal dysplasia, deformed ears, and other abnormalities. Am J Hum Genet 1970;22:370-7.","journal-title":"Am J Hum Genet"},{"key":"ref_10","first-page":"73","article-title":"The genetics of hand malformations","author":"Temtamy, S.; McKusick, V.","year":"1978","unstructured":"Temtamy S, McKusick V. The genetics of hand malformations. New York: Alan R Liss, 1978:73-184."},{"key":"ref_11","first-page":"81","article-title":"A familial dysmorphogenetic syndrome of limb deformities, characteristic facial appearance and associated anomalies: the 'pseudothalido, mide' or 'SC-syndrome'","volume":"3","author":"Herrmann, J.; Feingold, M.; Tuffli, G.A.; Opitz, J.M.","year":"1969","unstructured":"Herrmann J, Feingold M, Tuffli GA, Opitz JM. A familial dysmorphogenetic syndrome of limb deformities, characteristic facial appearance and associated anomalies: the 'pseudothalido, mide' or 'SC-syndrome'. Birth Defects 1969;V(3):81-9.","journal-title":"Birth Defects"},{"key":"ref_12","doi-asserted-by":"crossref","first-page":"17","DOI":"10.1002\/ajmg.1320040104","article-title":"Cytogenetic findings in Roberts-SC phocomelia syndrome(s)","volume":"4","author":"Tomkins, D.; Hunter, A.; Roberts, M.","year":"1979","unstructured":"Tomkins D, Hunter A, Roberts M. Cytogenetic findings in Roberts-SC phocomelia syndrome(s). Am J Med Genet 1979;4: 17-26.","journal-title":"Am J Med Genet"},{"key":"ref_13","article-title":"Mendelian inheritance in man","author":"l-McKusick VA","unstructured":"l-McKusick VA. Mendelian inheritance in man. 6th ed. Baltimore, London: Johns Hopkins University Press, 1983:575.","edition":"6th ed"},{"key":"ref_14","first-page":"41","article-title":"The genetics of hand malformations","author":"Tcmtamy, S.; McKusick, V.","year":"1978","unstructured":"Tcmtamy S, McKusick V. The genetics of hand malformations. New York: Alan R Liss, 1978:41-3."},{"key":"ref_15","doi-asserted-by":"crossref","first-page":"193","DOI":"10.1111\/j.1399-0004.1973.tb01142.x","article-title":"Autosomal monosomy (45, XX, C-) in a human embryo with total amelia and further malformations","volume":"4","author":"Pawlowitzki, I.H.; Cenani, A.; Frischbier, H.J.","year":"1973","unstructured":"Pawlowitzki IH, Cenani A, Frischbier HJ. Autosomal monosomy (45,XX,C-) in a human embryo with total amelia and further malformations. Clin Genet 1973;4:193-202.","journal-title":"Clin Genet"}],"container-title":["Journal of Medical Genetics"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/syndication.highwire.org\/content\/doi\/10.1136\/jmg.24.10.609","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2025,10,18]],"date-time":"2025-10-18T07:53:42Z","timestamp":1760774022000},"score":1,"resource":{"primary":{"URL":"https:\/\/jmg.bmj.com\/lookup\/doi\/10.1136\/jmg.24.10.609"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[1987,10]]},"references-count":15,"journal-issue":{"issue":"10","published-online":{"date-parts":[[1987,10,1]]},"published-print":{"date-parts":[[1987,10]]}},"alternative-id":["10.1136\/jmg.24.10.609"],"URL":"https:\/\/doi.org\/10.1136\/jmg.24.10.609","relation":{},"ISSN":["0022-2593","1468-6244"],"issn-type":[{"type":"print","value":"0022-2593"},{"type":"electronic","value":"1468-6244"}],"subject":[],"published":{"date-parts":[[1987,10]]}}}