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. 1997 Mar;34(3):252–255. doi: 10.1136/jmg.34.3.252

Cebocephaly, alobar holoprosencephaly, spina bifida, and sirenomelia in a stillbirth.

C P Chen 1, S L Shih 1, F F Liu 1, S W Jan 1
PMCID: PMC1050904  PMID: 9132501

Abstract

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.

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Selected References

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