Title: Familial transmission of a dysmorphic syndrome: A variant example of Kabuki syndrome?
Authors: Belengeanu, V ×
Rozsnyai, K
Farcas, S
Velea, I
Fryns, Jean-Pierre #
Issue Date: 2005
Publisher: Edition médicine et hygiène
Series Title: Genetic Counseling vol:16 issue:2 pages:167-171
Abstract: Familial transmission of a dysmorphic syndrome: a variant example of Kabuki syndrome?: We report a Romanian family with a dysmorphic syndrome in three generations: a boy, his mother and maternal grandfather, who all presented with the typical facial appearance, characteristic skeletal and dermatoglyphic findings of Kabuki syndrome, but no mental retardation, short Stature and visceral abnormalities. The phenotype observed in this family may represent the mild end of a spectrum of clinical manifestations described in this condition. This report provides a further evidence for autosomal dominant transmission of the disorder.
ISSN: 1015-8146
Publication status: published
KU Leuven publication type: IT
Appears in Collections:Clinical Genetics Section (-)
Department of Human Genetics - miscellaneous
× corresponding author
# (joint) last author

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