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Title: Hallermann-Streiff syndrome: clinical and psychological findings in children. Nosologic overlap with oculodentodigital dysplasia?
Authors: Spaepen, A
Schrander-Stumpel, C
Fryns, Jean-Pierre
de Die-Smulders, C
Borghgraef, Martine
Van den Berghe, Herman #
Issue Date: Dec-1991
Series Title: American Journal of Medical Genetics vol:41 issue:4 pages:517-20
Abstract: We describe 3 young children with Hallermann-Streiff syndrome, 2 with typical manifestations and 1 with the facial changes without the eye abnormalities but with a cleft palate and with complete syndactyly of fingers IV and V. The latter case represents overlap of the Hallermann-Streiff syndrome and oculodentodigital dysplasia. "Dwarfism" as a possible clinical risk marker of mental retardation is discussed. As cause, a mendelian autosomal dominant mutation seems most probable.
ISSN: 0148-7299
Publication status: published
KU Leuven publication type: IT
Appears in Collections:Clinical Genetics Section (-)
Department of Human Genetics - miscellaneous
# (joint) last author

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