| Literature DB >> 1663704 |
A Spaepen1, C Schrander-Stumpel, J P Fryns, C de Die-Smulders, M Borghgraef, H Van den Berghe.
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.Entities:
Mesh:
Year: 1991 PMID: 1663704 DOI: 10.1002/ajmg.1320410428
Source DB: PubMed Journal: Am J Med Genet ISSN: 0148-7299