{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,10,16]],"date-time":"2026-10-16T16:13:24Z","timestamp":1792167204636,"version":"4.4.0"},"reference-count":42,"publisher":"BMJ","issue":"3","content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["J Med Genet"],"published-print":{"date-parts":[[1997,3]]},"abstract":"<jats:p>Cebocephaly and sirenomelia are uncommon birth defects. Their association is extremely rare; however, the presence of spina bifida with both conditions is not unexpected. We report on a female still-birth with cebocephaly, alobar holoprosencephaly, cleft palate, lumbar spina bifida, sirenomelia, a single umbilical artery, and a 46,XX karyotype, but without maternal diabetes mellitus. Our case adds to the examples of overlapping cephalic and caudal defects, possibly related to vulnerability of the midline developmental field or axial mesodermal dysplasia spectrum.<\/jats:p>","DOI":"10.1136\/jmg.34.3.252","type":"journal-article","created":{"date-parts":[[2008,11,10]],"date-time":"2008-11-10T15:37:21Z","timestamp":1226331441000},"page":"252-255","source":"Crossref","is-referenced-by-count":30,"title":["Cebocephaly, alobar holoprosencephaly, spina bifida, and sirenomelia in a stillbirth."],"prefix":"10.1136","volume":"34","author":[{"given":"C P","family":"Chen","sequence":"first","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"S L","family":"Shih","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"F F","family":"Liu","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"S W","family":"Jan","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"239","published-online":{"date-parts":[[1997,3,1]]},"reference":[{"key":"ref_1","article-title":"alobar holoprosencephaly, spina bifida, and sirenomelia in a stillbirth The association of holoprosencephaly and sirenomelia is extremely rare. In 1986, Young et al\" first reported a twin infant, born at 33 gestational weeks, with cebocephaly, atelencephaly, and sirenomelia. Subsequently, only one patient with cyclopia, holoprosencephaly, and sirenomelia has been observed.'8 Here, we report an additional case of holoprosencephaly with sirenomelia. To our knowledge, the combination of cebocephaly, alobar holoprosencephaly, cleft palate, spina bifida, and sirenomelia has not been previously reported","author":"Cebocephaly","unstructured":"Cebocephaly, alobar holoprosencephaly, spina bifida, and sirenomelia in a stillbirth The association of holoprosencephaly and sirenomelia is extremely rare. In 1986, Young et al\" first reported a twin infant, born at 33 gestational weeks, with cebocephaly, atelencephaly, and sirenomelia. Subsequently, only one patient with cyclopia, holoprosencephaly, and sirenomelia has been observed.'8 Here, we report an additional case of holoprosencephaly with sirenomelia. To our knowledge, the combination of cebocephaly, alobar holoprosencephaly, cleft palate, spina bifida, and sirenomelia has not been previously reported."},{"key":"ref_2","article-title":"I owting Figure 1 Photograph of the sireniform stillbirth sl cebocephaly with ocular hypotelorism and a single; The lower limbs are fusedfrom the pelvis to the anAkles and angulated 1800 posteriorly in relation to the trunk","unstructured":"I owting Figure 1 Photograph of the sireniform stillbirth sl cebocephaly with ocular hypotelorism and a single; The lower limbs are fusedfrom the pelvis to the anAkles and angulated 1800 posteriorly in relation to the trunk."},{"key":"ref_3","article-title":"Discussion Our case is a rare combination of type I sirenomelia' with sympus dipus, alobar holoprosencephaly, cebocephaly, and spina bifida, without the association of maternal diabetes mellitus, monozygotic twins, abnormal chromosomal complements, or familial inheritance","unstructured":"Discussion Our case is a rare combination of type I sirenomelia' with sympus dipus, alobar holoprosencephaly, cebocephaly, and spina bifida, without the association of maternal diabetes mellitus, monozygotic twins, abnormal chromosomal complements, or familial inheritance."},{"issue":"2","key":"ref_4","article-title":"Sirenomelia sequence","volume-title":"defects enscyclopedia","volume":"1541","author":"Escobar, L.F.; Weaver, D.D.; Winn, J.","year":"1990","unstructured":"Escobar LF, Weaver DD, Winn J. Sirenomelia sequence. In: Buyse ML, ed. Birth defects enscyclopedia. Cambridge: Blackwell Scientific Publications, 1990:1541 -2."},{"key":"ref_5","first-page":"103","article-title":"Morphogenesis of malformation in hamsters caused by retinoic acid: relation to dose and stage at treatment","volume-title":"Teratology","volume":"5","author":"Shenefelt, R.E.","year":"1972","unstructured":"Shenefelt RE. Morphogenesis of malformation in hamsters caused by retinoic acid: relation to dose and stage at treatment. Teratology 1972;5:103-18."},{"key":"ref_6","doi-asserted-by":"crossref","first-page":"291","DOI":"10.1002\/tera.1420150311","article-title":"Influence of cyclophosphamide and 4-ketocyclophosphamide on mouse limb development","volume":"15","author":"Manson, J.M.; Smith, C.C.","year":"1977","unstructured":"Manson JM, Smith CC. Influence of cyclophosphamide and 4-ketocyclophosphamide on mouse limb development. 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YCraniofac Genet Dev Biol 1992;12:196-244."},{"key":"ref_29","doi-asserted-by":"crossref","first-page":"986","DOI":"10.1159\/000133716","article-title":"Report of the committee on clinical disorders, chromosome aberration, and uniparental disomy","volume":"58","author":"Frezal, J.; Schinzel, A.","year":"1991","unstructured":"Frezal J, Schinzel A. Report of the committee on clinical disorders, chromosome aberration, and uniparental disomy. Cytogeniet Cell Genet 1991;58:986-1052.","journal-title":"Cytogeniet Cell Genet"},{"key":"ref_30","doi-asserted-by":"crossref","first-page":"237","DOI":"10.1002\/ajmg.1320340222","article-title":"Clinical, cytogenetic and molecular approaches to the genetic heterogeneity of holoprosencephaly","volume":"34","author":"Muenke, M.","year":"1989","unstructured":"Muenke M. Clinical, cytogenetic and molecular approaches to the genetic heterogeneity of holoprosencephaly. 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