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Hallermann-Streiff syndrome: clinical and psychological findings in children. Nosologic overlap with oculodentodigital dysplasia?

Authors :
A Spaepen
C.E.M. de Die-Smulders
Martine Borghgraef
Constance T.R.M. Schrander-Stumpel
J. P. Fryns
H. Van den Berghe
Source :
American journal of medical genetics. 41(4)
Publication Year :
1991

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.

Details

ISSN :
01487299
Volume :
41
Issue :
4
Database :
OpenAIRE
Journal :
American journal of medical genetics
Accession number :
edsair.doi.dedup.....1d3c9f7824cfd02640712d562c5ad280