{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2025,10,23]],"date-time":"2025-10-23T11:00:28Z","timestamp":1761217228904,"version":"build-2065373602"},"reference-count":26,"publisher":"BMJ","issue":"2","content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["J Med Genet"],"published-print":{"date-parts":[[1985,4]]},"abstract":"<jats:p>A case of holoprosencephaly is reported in which the mother was prescribed high doses of oestroprogestins during the first 5 months of the pregnancy. Investigation of the family failed to reveal any sign of physical abnormality. A normal karyotype was detected in the proband. The authors suggest that this case may shed some light on the normal and abnormal way in which embryonic fields develop.<\/jats:p>","DOI":"10.1136\/jmg.22.2.147","type":"journal-article","created":{"date-parts":[[2008,11,10]],"date-time":"2008-11-10T15:09:16Z","timestamp":1226329756000},"page":"147-149","source":"Crossref","is-referenced-by-count":12,"title":["A case of suspected teratogenic holoprosencephaly."],"prefix":"10.1136","volume":"22","author":[{"given":"M","family":"Stabile","sequence":"first","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"A","family":"Bianco","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"S","family":"Iannuzzi","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"M C","family":"Buonocore","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"V","family":"Ventruto","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"239","published-online":{"date-parts":[[1985,4,1]]},"reference":[{"key":"ref_1","first-page":"113","article-title":"Genetic considerations in a sibship of cyclopia and clefts","volume":"2","author":"Cohen, M.M.; Gorlin, R.J.","year":"1969","unstructured":"Cohen MM, Gorlin RJ. Genetic considerations in a sibship of cyclopia and clefts. Birth Defects 1969;V(2):113-8.","journal-title":"Birth Defects"},{"key":"ref_2","doi-asserted-by":"crossref","first-page":"706","DOI":"10.1080\/00039896.1966.10664653","article-title":"Teratogenesis of craniofacial malformations in animals. III. Natural and experimental cephalic deformities in sheep","volume":"13","author":"Evans, H.E.; Ingalls, T.H.; Binns, W.","year":"1966","unstructured":"Evans HE, Ingalls TH, Binns W. Teratogenesis of craniofacial malformations in animals. III. Natural and experimental cephalic deformities in sheep. Arch Environ Health 1966;13:706-9.","journal-title":"Arch Environ Health"},{"key":"ref_3","first-page":"191","article-title":"Holoprosencephaly due to 69, XXX triploidy in a 5 month-old fetus","volume":"19","author":"Emberger, J.M.; Marty-Double, C.; Pincemin, D.; Caderas de Kerleau, J.","year":"1976","unstructured":"Emberger JM, Marty-Double C, Pincemin D, Caderas de Kerleau J. Holoprosencephaly due to 69,XXX triploidy in a 5 month-old fetus. Ann Genet (Paris) 1976;19:191-3.","journal-title":"Ann Genet (Paris)"},{"key":"ref_4","doi-asserted-by":"crossref","first-page":"294","DOI":"10.1136\/jmg.10.3.294","article-title":"Trisomy 13 in two infants with cyclops","volume":"10","author":"Fujimoto, A.; Ebbin, A.J.; Towner, J.W.; Wilson, M.G.","year":"1973","unstructured":"Fujimoto A, Ebbin AJ, Towner JW, Wilson MG. Trisomy 13 in two infants with cyclops. J Med Genet 1973;10:294-6.","journal-title":"J Med Genet"},{"key":"ref_5","doi-asserted-by":"crossref","first-page":"291","DOI":"10.1136\/jmg.14.4.291","article-title":"Cebocephaly in an infant with trisomy 18","volume":"14","author":"Hunter, A.G.W.; Ray, M.; Langston, C.","year":"1977","unstructured":"Hunter AGW, Ray M, Langston C. Cebocephaly in an infant with trisomy 18. J Med Genet 1977;14:291-2.","journal-title":"J Med Genet"},{"key":"ref_6","doi-asserted-by":"crossref","first-page":"195","DOI":"10.1002\/tera.1420140210","article-title":"Trisomy 18 and cyclopia","volume":"14","author":"Lang, A.P.; Schlager, F.M.; Gardner, H.A.","year":"1976","unstructured":"Lang AP, Schlager FM, Gardner HA. Trisomy 18 and cyclopia. Teratology 1976;14: 195-204.","journal-title":"Teratology"},{"key":"ref_7","doi-asserted-by":"crossref","first-page":"60","DOI":"10.1136\/jmg.5.1.60","article-title":"Arrhinencephaly associated with a deficiency involving chromosome 18","volume":"5","author":"McDermott, A.; Insley, J.; Barton, M.A.; Rowe, P.; Edwards, J.H.; Cameron, A.H.","year":"1968","unstructured":"McDermott A, Insley J, Barton MA, Rowe P, Edwards JH, Cameron AH. Arrhinencephaly associated with a deficiency involving chromosome 18. J Med Genet 1968;5:60-7.","journal-title":"J Med Genet"},{"key":"ref_8","first-page":"215","article-title":"Dominant inheritance of holoprosencephaly","volume":"6","year":"1978","unstructured":"Dominant inheritance of holoprosencephaly. Birth Defects 1978;XIV(6B):215-20.","journal-title":"Birth Defects"},{"key":"ref_9","first-page":"136","article-title":"Holoprosencephaly and facial dysmorphic nosology, etiology, and pathogenesis","volume":"7","author":"Cohen, M.M.; Jirasek, J.E.; Guzman, R.T.; Gorlin, R.J.; Patterson, M.Q.","year":"1971","unstructured":"Cohen MM, Jirasek JE, Guzman RT, Gorlin RJ, Patterson MQ. Holoprosencephaly and facial dysmorphic nosology, etiology, and pathogenesis. Birth Defects 1971;7:136-42.","journal-title":"Birth Defects"},{"key":"ref_10","first-page":"138","article-title":"Zuer Aetiologie der Arhinencephalie","volume":"12","author":"Greebe, H.","year":"1944","unstructured":"Greebe H. Zuer Aetiologie der Arhinencephalie. Erbarzt 1944;12:138-42.","journal-title":"Erbarzt"},{"key":"ref_11","doi-asserted-by":"crossref","first-page":"913","DOI":"10.1212\/WNL.13.11.913","article-title":"Familial alobar holoprosencephaly with median cleft lip and palate; report of patient with 46 chromosomes","volume":"13","author":"W, De Myer; W, Zeman; CD, Palmer","year":"1963","unstructured":"De Myer W, Zeman W, Palmer CD. Familial alobar holoprosencephaly with median cleft lip and palate; report of patient with 46 chromosomes. Neurology (Minneap) 1963;13:913-8.","journal-title":"Neurology (Minneap)"},{"key":"ref_12","doi-asserted-by":"crossref","first-page":"69","DOI":"10.1111\/j.1399-0004.1979.tb00854.x","article-title":"A case of cyclopia. Role of environmental factors","volume":"16","author":"Mollica, F.; Pavone, L.; Nuciforo, G.; Sorge, G.","year":"1979","unstructured":"Mollica F, Pavone L, Nuciforo G, Sorge G. A case of cyclopia. Role of environmental factors. Clin Genet 1979;16:69-71.","journal-title":"Clin Genet"},{"key":"ref_13","doi-asserted-by":"crossref","first-page":"1004","DOI":"10.1210\/jcem-19-8-1004","article-title":"Masculinization of the female infant with estrogenic therapy alone during gestation: four cases","volume":"19","author":"Bongiovanni, A.M.; Di George, A.M.; Grumbach, M.M.","year":"1959","unstructured":"Bongiovanni AM, Di George AM, Grumbach MM. Masculinization of the female infant with estrogenic therapy alone during gestation: four cases. J Clin Endocrinol 1959;19:1004-8.","journal-title":"J Clin Endocrinol"},{"issue":"172","key":"ref_14","first-page":"1029","article-title":"Masculinization of the female fetus due to the use of orally given progestins","volume":"1960","author":"Wilkins, L.","unstructured":"Wilkins L. Masculinization of the female fetus due to the use of orally given progestins. JAMA 1960;172:1029-32.","journal-title":"JAMA"},{"key":"ref_15","first-page":"191","article-title":"Hormonal pregnancy tests and congenital malformations","volume":"ii:","author":"Greenberg, G.; Inman, W.H.W.; Weatherall, J.A.C.; Adelstein, A.M.","year":"1975","unstructured":"Greenberg G, Inman WHW, Weatherall JAC, Adelstein AM. Hormonal pregnancy tests and congenital malformations. Br Med J 1975;ii:191-2.","journal-title":"Br Med J"},{"key":"ref_16","first-page":"24","article-title":"Preliminary evidence for a possible association between oral contraceptives and birth defects","volume":"7","author":"Nora, J.J.; Nora, A.H.","year":"1973","unstructured":"Nora JJ, Nora AH. Preliminary evidence for a possible association between oral contraceptives and birth defects. Teratology 1973;7:24A.","journal-title":"Teratology"},{"key":"ref_17","first-page":"697700","article-title":"Oral contraceptives and congenital limb reduction defects","volume":"291","author":"Janerich, D.T.; Piper, J.M.; Glebatis, D.M.","year":"1974","unstructured":"Janerich DT, Piper JM, Glebatis DM. Oral contraceptives and congenital limb reduction defects. N Engl J Med 1974;291:697700.","journal-title":"N Engl J Med"},{"key":"ref_18","doi-asserted-by":"crossref","first-page":"1058","DOI":"10.1136\/bmj.1.6068.1058","article-title":"Congenital heart disease and prenatal exposure to exogenous sex hormones","volume":"i:","author":"Janerich, D.T.; Dugan, J.M.; Standfast, S.J.","year":"1977","unstructured":"Janerich DT, Dugan JM, Standfast SJ. Congenital heart disease and prenatal exposure to exogenous sex hormones. Br Med J 1977;i: 1058-60.","journal-title":"Br Med J"},{"key":"ref_19","doi-asserted-by":"crossref","first-page":"657","DOI":"10.1016\/0002-9378(72)90791-0","article-title":"A case of cyclopia","volume":"112","author":"Batts, J.A.; Punnett, H.H.; Valdes-Dapena, M.; Coles, J.W.; Green, W.R.","year":"1972","unstructured":"Batts JA, Punnett HH, Valdes-Dapena M, Coles JW, Green WR. A case of cyclopia. Am J Obstet Gynecol 1972;112:657-61.","journal-title":"Am J Obstet Gynecol"},{"key":"ref_20","first-page":"21","article-title":"Maternal exposure to oral contraceptives and other female sex hormones: relation to birth defects in a prospectively ascertained cohort of 50,282 pregnancies","volume":"9","author":"Hook, E.B.; Heinonen, O.P.; Shapiro, S.; Slone, D.","year":"1974","unstructured":"(1 Hook EB, Heinonen OP, Shapiro S, Slone D. Maternal exposure to oral contraceptives and other female sex hormones: relation to birth defects in a prospectively ascertained cohort of 50,282 pregnancies. Teratology 1974;9:21-2A.","journal-title":"Teratology"},{"key":"ref_21","doi-asserted-by":"crossref","first-page":"354","DOI":"10.1016\/0002-9378(71)90328-0","article-title":"Pregnancy outcome following oral contraceptives","volume":"109","author":"Robinson, S.C.","year":"1971","unstructured":"Robinson SC. Pregnancy outcome following oral contraceptives. Am J Obstet Gynecol 1971;109:354-8.","journal-title":"Am J Obstet Gynecol"},{"key":"ref_22","doi-asserted-by":"crossref","first-page":"324","DOI":"10.1007\/978-1-4615-8933-4","article-title":"Embryotoxicity of drugs in man","volume-title":"Handbook of teratology. Vol","author":"Wilson, J.G.","year":"1977","unstructured":"Wilson JG. Embryotoxicity of drugs in man. In: Wilson JG, Fraser FC, eds. Handbook of teratology. Vol 1. London, New York: Plenum Press, 1977:324-7."},{"key":"ref_23","first-page":"11","article-title":"Comparative teratogenicity of contraceptive steroids in mice and rats","volume":"7","author":"Andrew, F.D.; Christensen, H.D.; Williams, T.L.; Thompson, M.G.; Wall, M.E.","year":"1973","unstructured":"Andrew FD, Christensen HD, Williams TL, Thompson MG, Wall ME. Comparative teratogenicity of contraceptive steroids in mice and rats. Teratology 1973;7:11-12A.","journal-title":"Teratology"},{"key":"ref_24","first-page":"9","article-title":"Ricerche di fetoembriotossicita sull'allilestrenolo nel Mus rattus albinus","volume":"13","author":"B, Lo Scalzo; A, Agrusta; M, Agrusta; A, Crisci; L, Genovese; M, Marino","year":"1983","unstructured":"Lo Scalzo B, Agrusta A, Agrusta M, Crisci A, Genovese L, Marino M. Ricerche di fetoembriotossicita sull'allilestrenolo nel Mus rattus albinus. Riv Toss Sper Clin 1983;13:9-19.","journal-title":"Riv Toss Sper Clin"},{"key":"ref_25","unstructured":"SUMMARY A case of the Goldenhar anomalad is presented with a previously undescribed association with oesophageal atresia and tracheo-oesophageal fistula. This is the second instance of a tracheobronchial-oesophageal communication being found in association with the anomalad. Awareness of this combination may facilitate future diagnosis and treatment of the anomaly.","article-title":"SUMMARY A case of the Goldenhar anomalad is presented with a previously undescribed association with oesophageal atresia and tracheo-oesophageal fistula. This is the second instance of a tracheobronchial-oesophageal communication being found in association with the anomalad. Awareness of this combination may facilitate future diagnosis and treatment of the anomaly"},{"key":"ref_26","unstructured":"The Goldenhar anomalad is an association of facial and auricular anomalies resulting from errors in morphogenesis of the first and second branchial arches, accompanied sometimes by vertebral, ocular, and visceral malformations.' We describe a case with previously undescribed anomalies including tracheo-oesophageal fistula, oesophageal atresia, and hypoplasia of the cerebellum.","article-title":"The Goldenhar anomalad is an association of facial and auricular anomalies resulting from errors in morphogenesis of the first and second branchial arches, accompanied sometimes by vertebral, ocular, and visceral malformations.' We describe a case with previously undescribed anomalies including tracheo-oesophageal fistula, oesophageal atresia, and hypoplasia of the cerebellum"}],"container-title":["Journal of Medical Genetics"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/syndication.highwire.org\/content\/doi\/10.1136\/jmg.22.2.147","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2025,10,18]],"date-time":"2025-10-18T05:43:02Z","timestamp":1760766182000},"score":1,"resource":{"primary":{"URL":"https:\/\/jmg.bmj.com\/lookup\/doi\/10.1136\/jmg.22.2.147"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[1985,4]]},"references-count":26,"journal-issue":{"issue":"2","published-online":{"date-parts":[[1985,4,1]]},"published-print":{"date-parts":[[1985,4]]}},"alternative-id":["10.1136\/jmg.22.2.147"],"URL":"https:\/\/doi.org\/10.1136\/jmg.22.2.147","relation":{},"ISSN":["0022-2593","1468-6244"],"issn-type":[{"type":"print","value":"0022-2593"},{"type":"electronic","value":"1468-6244"}],"subject":[],"published":{"date-parts":[[1985,4]]}}}