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Title: Early clinical signs in Coffin-Lowry syndrome
Authors: Vles, J S
Haspeslagh, M
Raes, M M
Fryns, Jean-Pierre
Casaer, Paul
Eggermont, Ephrem #
Issue Date: Nov-1984
Series Title: Clinical Genetics vol:26 issue:5 pages:448-52
Abstract: Two unrelated patients with Coffin-Lowry syndrome are described. The main characteristics of a typical face, thick hands with tapering fingers and a transverse hypothenar crease, general hypotonia with extensible joints made diagnosis possible before the age of 6 months. A persistent large anterior fontanel beyond the age of two years may be another associated finding. Retarded bone age, coarsity of the face and skeletal malformations considered characteristic in adult patients were not present. Early recognition of Coffin-Lowry syndrome is important for genetic counseling and prevention of severe skeletal malformations.
ISSN: 0009-9163
Publication status: published
KU Leuven publication type: IT
Appears in Collections:Clinical Genetics Section (-)
Section Child - Miscellaneous (-)
Faculty of Medicine - miscellaneous
Department of Human Genetics - miscellaneous
# (joint) last author

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