Abnormal motor behaviour and developmental postmortem findings in a fetus with Fanconi anaemia
(1994) In Early Human Development 36(2). p.137-142- Abstract
- Prenatal diagnosis in the third pregnancy of a mother who already had one healthy son and one son with Fanconi anaemia (FA), revealed that her fetus was also affected with FA. At 22 weeks a maternal complaint about excessive fetal kicking starting at 15 weeks, focused our attention on the behaviour of the fetus, which was observed by means of real-time ultrasound for 30 min. The differentiation of specific movement patterns was strongly diminished. The qualitative expression of general movements was considered to be consistently abnormal due to the fact that they were performed with large amplitudes, high speed and abrupt onsets. The incidence of general movements was within the normal range, however, the distribution in the burst-pause... (More)
- Prenatal diagnosis in the third pregnancy of a mother who already had one healthy son and one son with Fanconi anaemia (FA), revealed that her fetus was also affected with FA. At 22 weeks a maternal complaint about excessive fetal kicking starting at 15 weeks, focused our attention on the behaviour of the fetus, which was observed by means of real-time ultrasound for 30 min. The differentiation of specific movement patterns was strongly diminished. The qualitative expression of general movements was considered to be consistently abnormal due to the fact that they were performed with large amplitudes, high speed and abrupt onsets. The incidence of general movements was within the normal range, however, the distribution in the burst-pause pattern was abnormal. Postmortem examination showed a spongy myelinopathy of the central nervous system that may account for the abnormal motor activity. This combination of findings has not been previously reported in association with FA. (Less)
Please use this url to cite or link to this publication:
https://lup.lub.lu.se/record/1108680
- author
- de Vries, J I ; Laurini, Ricardo LU and Visser, G H
- publishing date
- 1994
- type
- Contribution to journal
- publication status
- published
- subject
- keywords
- Abnormal fetal behaviour, Fanconi anaemia, Developmental postmortem, Spongiform degeneration of white matter
- in
- Early Human Development
- volume
- 36
- issue
- 2
- pages
- 137 - 142
- publisher
- Elsevier
- external identifiers
-
- pmid:8200322
- scopus:0028262454
- ISSN
- 1872-6232
- DOI
- 10.1016/0378-3782(94)90041-8
- language
- English
- LU publication?
- no
- id
- c524265f-db3e-4597-8b57-c682f54986dd (old id 1108680)
- date added to LUP
- 2016-04-01 15:18:26
- date last changed
- 2021-01-03 05:22:59
@article{c524265f-db3e-4597-8b57-c682f54986dd,
abstract = {{Prenatal diagnosis in the third pregnancy of a mother who already had one healthy son and one son with Fanconi anaemia (FA), revealed that her fetus was also affected with FA. At 22 weeks a maternal complaint about excessive fetal kicking starting at 15 weeks, focused our attention on the behaviour of the fetus, which was observed by means of real-time ultrasound for 30 min. The differentiation of specific movement patterns was strongly diminished. The qualitative expression of general movements was considered to be consistently abnormal due to the fact that they were performed with large amplitudes, high speed and abrupt onsets. The incidence of general movements was within the normal range, however, the distribution in the burst-pause pattern was abnormal. Postmortem examination showed a spongy myelinopathy of the central nervous system that may account for the abnormal motor activity. This combination of findings has not been previously reported in association with FA.}},
author = {{de Vries, J I and Laurini, Ricardo and Visser, G H}},
issn = {{1872-6232}},
keywords = {{Abnormal fetal behaviour; Fanconi anaemia; Developmental postmortem; Spongiform degeneration of white matter}},
language = {{eng}},
number = {{2}},
pages = {{137--142}},
publisher = {{Elsevier}},
series = {{Early Human Development}},
title = {{Abnormal motor behaviour and developmental postmortem findings in a fetus with Fanconi anaemia}},
url = {{http://dx.doi.org/10.1016/0378-3782(94)90041-8}},
doi = {{10.1016/0378-3782(94)90041-8}},
volume = {{36}},
year = {{1994}},
}