Title
Blomstrand lethal osteochondrodysplasia Blomstrand lethal osteochondrodysplasia
Author
Faculty/Department
Faculty of Medicine and Health Sciences
Publication type
article
Publication
New York, N.Y. ,
Subject
Human medicine
Source (journal)
American journal of medical genetics. - New York, N.Y., 1977 - 2002
Volume/pages
63(1996) :1 , p. 84-89
ISSN
0148-7299
ISI
A1996UH93900017
Carrier
E
Target language
English (eng)
Full text (Publishers DOI)
Affiliation
University of Antwerp
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.
E-info
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Handle