Header

UZH-Logo

Maintenance Infos

Autosomal recessive severe congenital microcephaly: antenatal ultrasonographic diagnosis and head growth from 15 to 24 weeks of gestation


Schinzel, Albert; Litschgi, M (1984). Autosomal recessive severe congenital microcephaly: antenatal ultrasonographic diagnosis and head growth from 15 to 24 weeks of gestation. Journal of Medical Genetics, 21(5):355-358.

Abstract

A severely microcephalic, quadiplegic child without extracranial anomalies was born to a young non-consanguineous couple. Ultrasonographic examination at 15 weeks of the second pregnancy revealed a biparietal diameter that corresponded to 13 weeks, although the other measurements were in accordance with 15 weeks' gestation. Further examination at 20 and 24 weeks revealed progressive microcephaly. The aborted fetus (at 24 weeks' gestation) was grossly microcephalic, but lacked further abnormal findings. Antenatal ultrasonographic diagnosis of autosomal recessive microcephaly is feasible, at least in a proportion of cases.

Abstract

A severely microcephalic, quadiplegic child without extracranial anomalies was born to a young non-consanguineous couple. Ultrasonographic examination at 15 weeks of the second pregnancy revealed a biparietal diameter that corresponded to 13 weeks, although the other measurements were in accordance with 15 weeks' gestation. Further examination at 20 and 24 weeks revealed progressive microcephaly. The aborted fetus (at 24 weeks' gestation) was grossly microcephalic, but lacked further abnormal findings. Antenatal ultrasonographic diagnosis of autosomal recessive microcephaly is feasible, at least in a proportion of cases.

Statistics

Citations

Dimensions.ai Metrics
7 citations in Web of Science®
6 citations in Scopus®
Google Scholar™

Altmetrics

Downloads

1 download since deposited on 04 Apr 2024
1 download since 12 months
Detailed statistics

Additional indexing

Item Type:Journal Article, refereed, original work
Communities & Collections:04 Faculty of Medicine > Institute of Medical Genetics
Dewey Decimal Classification:610 Medicine & health
570 Life sciences; biology
Scopus Subject Areas:Life Sciences > Genetics
Health Sciences > Genetics (clinical)
Uncontrolled Keywords:Genetics (clinical), Genetics
Language:English
Date:1 October 1984
Deposited On:04 Apr 2024 11:07
Last Modified:14 Jun 2024 09:55
Publisher:BMJ Publishing Group
ISSN:0022-2593
OA Status:Closed
Free access at:Publisher DOI. An embargo period may apply.
Publisher DOI:https://doi.org/10.1136/jmg.21.5.355
Other Identification Number:Corpus ID: 84617925