An infant who died in the perinatal period with the unusual association of trisomy 18 and cebocephaly is described. It is suggested that this association may be more common than is generally recognised because the majority of such infants are stillborn or live only briefly and often do not have chromosome studies performed.
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| http://dx.doi.org/10.1136/jmg.14.4.291 | DOI Listing |
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Musculoskeletal study of cebocephalic and cyclopic lamb heads illuminates links between normal and abnormal development, evolution and human pathologies.
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Department of Radiology, Howard University College of Medicine, Washington, USA.
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Department of Obstetrics, Gynecology and Neonatology, Carol Davila University of Medicine and Pharmacy, Sf Pantelimon Clinical Emergency Hospital, Bucharest Department of Obstetrics and Gynecology, University of Medicine and Pharmacy, Victor Babes, Timisoara Department of Obstetrics and Gynecology, Sf Pantelimon Clinical Emergency Hospital Department of Obstetrics, Gynecology and Neonatology, Polizu Clinical Hospital Department of Obstetrics, Gynecology and Neonatology, Carol Davila University of Medicine and Pharmacy, Sf Ioan Emergency Hospital, Bucharest, Romania.
Rationale: Holoprosencephaly is a structural malformation of the brain that results from the complete or incomplete noncleavage of the forebrain of the embryo into 2 hemispheres. We report a severe case of alobar holoprosencephaly diagnosed at 38 weeks, associated with cebocephaly, microcephaly, and craniosynostosis.
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Department of Otolaryngology-Head and Neck Surgery, Virginia Commonwealth University, 1200 East Broad St., West Hospital, 12th Floor, South Wing, Suite 313, PO Box 980146, Richmond, VA 23298-0146, USA.
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