Prenatal Diagnosis of Iniencephaly

Iniencephaly is characterized by a variable deficit of the occipital bones, resulting in an enlarged foramen magnum; partial or total absence of cervical and thoracic vertebrae with an irregular fusion of those present, accompanied by incomplete closure of the vertebral arches and/or bodies; signifi...

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Main Author: Chih-Ping Chen
Format: Article
Language:English
Published: Elsevier 2007-09-01
Series:Taiwanese Journal of Obstetrics & Gynecology
Subjects:
Online Access:http://www.sciencedirect.com/science/article/pii/S1028455908600212
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spelling doaj-ba469c02a35e494bb3d18094f5897b452020-11-24T21:44:55ZengElsevierTaiwanese Journal of Obstetrics & Gynecology1028-45592007-09-0146319920810.1016/S1028-4559(08)60021-2Prenatal Diagnosis of IniencephalyChih-Ping ChenIniencephaly is characterized by a variable deficit of the occipital bones, resulting in an enlarged foramen magnum; partial or total absence of cervical and thoracic vertebrae with an irregular fusion of those present, accompanied by incomplete closure of the vertebral arches and/or bodies; significant shortening of the spinal column due to marked lordosis and hyperextension of the malformed cervicothoracic spine; and an upward-turned face and mandibular skin directly continuous with that of the chest due to the lack of neck. This article provides a comprehensive review of the reported cases of prenatally detected iniencephaly, including prenatal diagnosis, associated malformations, associated chromosomal abnormalities, and differential diagnosis. Prenatal diagnosis of a neural tube defect involving a body defect in the occiput and rachischisis of the cervical and thoracic spine with retroflexion of the head should raise the suspicion of iniencephaly. Iniencephaly may be associated with craniorachischisis and other structural anomalies. Prenatal diagnosis of non-isolated iniencephaly and craniorachischisis should alert one to the possibility of chromosomal abnormalities and prompt a cytogenetic investigation.http://www.sciencedirect.com/science/article/pii/S1028455908600212aneuploidycraniorachischisisiniencephalyJarcho-Levin syndromeKlippel-Feil syndromeprenatal diagnosisspondylocostal dysostosis
collection DOAJ
language English
format Article
sources DOAJ
author Chih-Ping Chen
spellingShingle Chih-Ping Chen
Prenatal Diagnosis of Iniencephaly
Taiwanese Journal of Obstetrics & Gynecology
aneuploidy
craniorachischisis
iniencephaly
Jarcho-Levin syndrome
Klippel-Feil syndrome
prenatal diagnosis
spondylocostal dysostosis
author_facet Chih-Ping Chen
author_sort Chih-Ping Chen
title Prenatal Diagnosis of Iniencephaly
title_short Prenatal Diagnosis of Iniencephaly
title_full Prenatal Diagnosis of Iniencephaly
title_fullStr Prenatal Diagnosis of Iniencephaly
title_full_unstemmed Prenatal Diagnosis of Iniencephaly
title_sort prenatal diagnosis of iniencephaly
publisher Elsevier
series Taiwanese Journal of Obstetrics & Gynecology
issn 1028-4559
publishDate 2007-09-01
description Iniencephaly is characterized by a variable deficit of the occipital bones, resulting in an enlarged foramen magnum; partial or total absence of cervical and thoracic vertebrae with an irregular fusion of those present, accompanied by incomplete closure of the vertebral arches and/or bodies; significant shortening of the spinal column due to marked lordosis and hyperextension of the malformed cervicothoracic spine; and an upward-turned face and mandibular skin directly continuous with that of the chest due to the lack of neck. This article provides a comprehensive review of the reported cases of prenatally detected iniencephaly, including prenatal diagnosis, associated malformations, associated chromosomal abnormalities, and differential diagnosis. Prenatal diagnosis of a neural tube defect involving a body defect in the occiput and rachischisis of the cervical and thoracic spine with retroflexion of the head should raise the suspicion of iniencephaly. Iniencephaly may be associated with craniorachischisis and other structural anomalies. Prenatal diagnosis of non-isolated iniencephaly and craniorachischisis should alert one to the possibility of chromosomal abnormalities and prompt a cytogenetic investigation.
topic aneuploidy
craniorachischisis
iniencephaly
Jarcho-Levin syndrome
Klippel-Feil syndrome
prenatal diagnosis
spondylocostal dysostosis
url http://www.sciencedirect.com/science/article/pii/S1028455908600212
work_keys_str_mv AT chihpingchen prenataldiagnosisofiniencephaly
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