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Title: A new lethal chondrodysplasia with spondylocostal dysostosis, multiple internal anomalies and Dandy-Walker cyst
Authors: Moerman, Philippe ×
Vandenberghe, K
Fryns, Jean-Pierre
Haspeslagh, M
Lauweryns, Jozef #
Issue Date: Feb-1985
Series Title: Clinical Genetics vol:27 issue:2 pages:160-4
Abstract: We describe here a female infant, exhibiting lethal short-limbed dwarfism. The condition superficially resembled achondrogenesis. However, unlike achondrogenesis there was an associated severe spondylocostal dysostosis and major non-skeletal anomalies, particularly a cerebellar Dandy-Walker cyst, cardiovascular and urogenital malformations. The chondroosseous morphology was nonspecific. The case is believed to be unique. It is therefore suggested that this constellation of anomalies constitutes a "new" lethal syndrome, different from the delineated chondrodysplasias.
ISSN: 0009-9163
Publication status: published
KU Leuven publication type: IT
Appears in Collections:Clinical Genetics Section (-)
Translational Cell & Tissue Research
Faculty of Medicine - miscellaneous
Department of Human Genetics - miscellaneous
× corresponding author
# (joint) last author

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