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

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....

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Main Authors: Meike Bangma, Simone Lunshof, Diane Van Opstal, Robert J. Galjaard, Dimitri N.M. Papatsonis
Format: Article
Language:English
Published: Thieme Medical Publishers, Inc. 2011-12-01
Series:American Journal of Perinatology Reports
Subjects:
Online Access:https://www.thieme-connect.de/products/ejournals/html/10.1055/s-0031-1280850
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author Meike Bangma
Simone Lunshof
Diane Van Opstal
Robert J. Galjaard
Dimitri N.M. Papatsonis
author_facet Meike Bangma
Simone Lunshof
Diane Van Opstal
Robert J. Galjaard
Dimitri N.M. Papatsonis
author_sort Meike Bangma
collection DOAJ
description 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.
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spelling doaj.art-270e56d8a4324a68a4214c57d4f67e562022-12-22T00:23:44ZengThieme Medical Publishers, Inc.American Journal of Perinatology Reports2157-69982157-70052011-12-01010207307610.1055/s-0031-128085Prenatal Diagnosis of Alobar Holoprosencephaly, Cyclopia, Proboscis, and Isochromosome 18q in the Second TrimesterMeike Bangma0Simone Lunshof1Diane Van Opstal2Robert J. Galjaard3Dimitri N.M. Papatsonis4Amphia Hospital BredaAmphia Hospital BredaErasmus MCErasmus MCAmphia Hospital BredaWe 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.https://www.thieme-connect.de/products/ejournals/html/10.1055/s-0031-1280850Alobar holoprosencephalycyclopiaproboscisprenatal diagnosisisochromosome 18qsonography
spellingShingle Meike Bangma
Simone Lunshof
Diane Van Opstal
Robert J. Galjaard
Dimitri N.M. Papatsonis
Prenatal Diagnosis of Alobar Holoprosencephaly, Cyclopia, Proboscis, and Isochromosome 18q in the Second Trimester
American Journal of Perinatology Reports
Alobar holoprosencephaly
cyclopia
proboscis
prenatal diagnosis
isochromosome 18q
sonography
title Prenatal Diagnosis of Alobar Holoprosencephaly, Cyclopia, Proboscis, and Isochromosome 18q in the Second Trimester
title_full Prenatal Diagnosis of Alobar Holoprosencephaly, Cyclopia, Proboscis, and Isochromosome 18q in the Second Trimester
title_fullStr Prenatal Diagnosis of Alobar Holoprosencephaly, Cyclopia, Proboscis, and Isochromosome 18q in the Second Trimester
title_full_unstemmed Prenatal Diagnosis of Alobar Holoprosencephaly, Cyclopia, Proboscis, and Isochromosome 18q in the Second Trimester
title_short Prenatal Diagnosis of Alobar Holoprosencephaly, Cyclopia, Proboscis, and Isochromosome 18q in the Second Trimester
title_sort prenatal diagnosis of alobar holoprosencephaly cyclopia proboscis and isochromosome 18q in the second trimester
topic Alobar holoprosencephaly
cyclopia
proboscis
prenatal diagnosis
isochromosome 18q
sonography
url https://www.thieme-connect.de/products/ejournals/html/10.1055/s-0031-1280850
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