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Prenatal ultrasonographic diagnosis of holoprosencephaly two cases of cebocephaly and two of cyclopia


Schinzel, Albert; Savoldelli, Guido; Briner, Jakob; Schmid, Werner (1984). Prenatal ultrasonographic diagnosis of holoprosencephaly two cases of cebocephaly and two of cyclopia. Archives of Gynecology and Obstetrics, 236(1):47-53.

Abstract

Four instances of ultrasonographic detection of holoprosencephaly, one during the second and three during the third trimester of gestation, are reported. Horizontal scans of the skull showed absence of midline structures, communication between the lateral ventricles and reduction of the brain mass, particularly anteriorly. Sagittal scans revealed absence of the nose and presence of a proboscis in the fetuses with cyclopia and hypoplasia of the nose in one cebocephalic fetus. Hypotelorism or a single midline orbit are further pathognomonic features detectable by ultrasound, but only the latter was identified in one of the cyclopic fetuses. Facultative findings of holoprosencephaly identifiable by ultrasound, but absent in our cases, are premaxillary agenesis and bilateral cleft lip and maxilla. The characteristic pattern of ultrasonographic findings in holoprosencephaly should allow an unequivocal prenatal diagnosis during the second and third trimester.

Abstract

Four instances of ultrasonographic detection of holoprosencephaly, one during the second and three during the third trimester of gestation, are reported. Horizontal scans of the skull showed absence of midline structures, communication between the lateral ventricles and reduction of the brain mass, particularly anteriorly. Sagittal scans revealed absence of the nose and presence of a proboscis in the fetuses with cyclopia and hypoplasia of the nose in one cebocephalic fetus. Hypotelorism or a single midline orbit are further pathognomonic features detectable by ultrasound, but only the latter was identified in one of the cyclopic fetuses. Facultative findings of holoprosencephaly identifiable by ultrasound, but absent in our cases, are premaxillary agenesis and bilateral cleft lip and maxilla. The characteristic pattern of ultrasonographic findings in holoprosencephaly should allow an unequivocal prenatal diagnosis during the second and third trimester.

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Additional indexing

Item Type:Journal Article, refereed, original work
Communities & Collections:04 Faculty of Medicine > Institute of Medical Genetics
04 Faculty of Medicine > University Hospital Zurich > Clinic for Gynecology
04 Faculty of Medicine > Institute of Legal Medicine
Dewey Decimal Classification:570 Life sciences; biology
610 Medicine & health
Scopus Subject Areas:Health Sciences > Obstetrics and Gynecology
Uncontrolled Keywords:Obstetrics and Gynecology, General Medicine, Obstetrics and Gynecology, General Medicine, Cebocephaly Cyclopia, Holoprosencephaly, Partial trisomy 1q, Partial monosomy 7q, Prenatal diagnosis, Ultrasound, Genetics (clinical)
Language:English
Date:1 October 1984
Deposited On:27 Jan 2023 12:12
Last Modified:23 Jun 2024 03:46
Publisher:Springer
ISSN:0932-0067
Additional Information:Prof. Dr. med. Werner Schmid (Director of the institute till 1996)
OA Status:Closed
Publisher DOI:https://doi.org/10.1007/bf02114868
PubMed ID:6391395
Other Identification Number:Corpus ID: 23532087