Hallermann-Streiff syndrome: clinical and psychological findings in children. Nosologic overlap with oculodentodigital dysplasia?
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.
Spaepen
A
A
Center for Human Genetics, University of Leuven, Belgium.
Schrander-Stumpel
C
C
Fryns
J P
JP
de Die-Smulders
C
C
Borghgraef
M
M
Van den Berghe
H
H
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