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AJP Rep 2011; 01(02): 073-076
DOI: 10.1055/s-0031-1280850
Thieme Medical Publishers 333 Seventh Avenue, New York, NY 10001, USA.

Prenatal Diagnosis of Alobar Holoprosencephaly, Cyclopia, Proboscis, and Isochromosome 18q in the Second Trimester

Meike Bangma
1   Department of Obstetrics and Gynecology, Amphia Hospital Breda, Breda
,
Simone Lunshof
1   Department of Obstetrics and Gynecology, Amphia Hospital Breda, Breda
,
Diane Van Opstal
2   Department of Clinical Genetics, Erasmus MC, Rotterdam, The Netherlands
,
Robert J. Galjaard
2   Department of Clinical Genetics, Erasmus MC, Rotterdam, The Netherlands
,
Dimitri N.M. Papatsonis
1   Department of Obstetrics and Gynecology, Amphia Hospital Breda, Breda
› Author Affiliations
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Publication History

Publication Date:
08 June 2011 (online)

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Abstract

We would like to present a rare case of alobar holoprosencephaly (HPE) in a fetus diagnosed by routine sonography in the second trimester. Structural sonography demonstrated multiple facial anomalies including absent nasal bone, flat facial profile, hypotelorism, fusion of the orbits and proboscis. After counseling, termination of pregnancy was performed by vaginally administered misoprostol. Karyotyping of amniotic fluid cells revealed an isochromosome 18q, resulting in a trisomy 18q and monosomy 18p. A stillborn female of 390 g with several congenital anomalies was born. Postmortem examination demonstrated several anomalies including the HPE, cyclopia, double fused eye, absence of the nose, and the presence of a proboscis. In the literature only a few cases have been published.

Keywords

Alobar holoprosencephaly - cyclopia - proboscis - prenatal diagnosis - isochromosome 18q - sonography
 

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