title: Hallermann-Streiff syndrome: clinical and psychological findings in children. Nosologic overlap with oculodentodigital dysplasia?
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.
authors.affiliation: Center for Human Genetics, University of Leuven, Belgium.
authors.forename: A
authors.initials: A
authors.lastname: Spaepen
authors.forename: C
authors.initials: C
authors.lastname: Schrander-Stumpel
authors.forename: J P
authors.initials: JP
authors.lastname: Fryns
authors.forename: C
authors.initials: C
authors.lastname: de Die-Smulders
authors.forename: M
authors.initials: M
authors.lastname: Borghgraef
authors.forename: H
authors.initials: H
authors.lastname: Van den Berghe
mesh_terms: D002675:Child, Preschool; D003937:Diagnosis, Differential; D005124:Eye Abnormalities / Q000235:genetics; D005260:Female; D005799:Genes, Dominant; D006210:Hallermann's Syndrome / Q000175:diagnosis* / Q000235:genetics / Q000523:psychology; D006801:Humans; D007223:Infant; D008607:Intellectual Disability / Q000235:genetics; D008297:Male; D013576:Syndactyly / Q000235:genetics; D014071:Tooth Abnormalities / Q000235:genetics