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PMID: 3621646 Published · ppublish English Case Reports Journal Article

The Brachmann-de Lange syndrome in two siblings of normal parents.

Clinical genetics ·Vol. 31 ·No. 6 ·1987-06-00 ·Pages 413-5

Fryns JP, Dereymaeker AM, Hoefnagels M, D'Hondt F, Mertens G, van den Berghe H

Abstract

In this report we describe two male siblings with typical Brachmann-de Lange syndrome. Both presented a severe form of this MCA syndrome, and died at the age of 3 months and 3 weeks, respectively. Family history was completely negative, parents were normal, and prometaphase chromosome studies failed to reveal a chromosomal basis for this unique malformation syndrome.

MeSH Terms
Abnormalities, Multiple/genetics Genes, Dominant Humans Male Pedigree Syndrome
Authors & Affiliations
6 authors, click to expand affiliations / ORCID
Fryns J P
Dereymaeker A M
Hoefnagels M
D'Hondt F
Mertens G
van den Berghe H
Article Info
Journal
Clinical genetics
Abbr.
Clin Genet
ISSN
0009-9163
Published
1987-06-00
Pages
413-5
Language
English
Region
Denmark
NLM ID
0253664
Subset
IM
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