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Case Reports
. 1997 Mar;34(3):252-5.
doi: 10.1136/jmg.34.3.252.

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

C P Chen  1 , S L Shih, F F Liu, S W Jan
Affiliations
Case Reports

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

C P Chen et al. J Med Genet. 1997 Mar.

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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Comment in

  • Cyclopia and sirenomelia in a liveborn infant.
    Martínez-Frías ML, García A, Bermejo E. Martínez-Frías ML, et al. J Med Genet. 1998 Mar;35(3):263-4. doi: 10.1136/jmg.35.3.263-a. J Med Genet. 1998. PMID: 9541120 Free PMC article. No abstract available.

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