Publication
Title
Blomstrand lethal osteochondrodysplasia
Author
Abstract
We present the clinical, roentgenographic, and histologic abnormalities in a stillborn infant with Blomstrand osteochondrodysplasia, Parental consanguinity and multiplex occurrence in the patients' sibship confirm the hypothesis of autosomal recessive inheritance of this monogenic lethal entity, The unknown genetic defect interferes severely with skeletal growth through lack of chondrocyte multiplication and apparent uncoupling of the processes of enchondral ossification and skeletal growth. (C) 1996 Wiley-Liss, Inc.
Language
English
Source (journal)
American journal of medical genetics. - New York, N.Y., 1977 - 2002
Publication
New York, N.Y. : 1996
ISSN
0148-7299
Volume/pages
63:1(1996), p. 84-89
ISI
A1996UH93900017
Full text (Publisher's DOI)
Full text (publisher's version - intranet only)
UAntwerpen
Faculty/Department
Research group
Publication type
Subject
Affiliation
Publications with a UAntwerp address
External links
Web of Science
Record
Identification
Creation 19.07.2012
Last edited 21.09.2017
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