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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Format: | Article |
Language: | English |
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Thieme Medical Publishers, Inc.
2011-12-01
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Series: | American Journal of Perinatology Reports |
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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. |
first_indexed | 2024-12-12T13:02:47Z |
format | Article |
id | doaj.art-270e56d8a4324a68a4214c57d4f67e56 |
institution | Directory Open Access Journal |
issn | 2157-6998 2157-7005 |
language | English |
last_indexed | 2024-12-12T13:02:47Z |
publishDate | 2011-12-01 |
publisher | Thieme Medical Publishers, Inc. |
record_format | Article |
series | American Journal of Perinatology Reports |
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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