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  • Title: Hallermann-Streiff syndrome: clinical and psychological findings in children. Nosologic overlap with oculodentodigital dysplasia?
    Author: Spaepen A, Schrander-Stumpel C, Fryns JP, de Die-Smulders C, Borghgraef M, Van den Berghe H.
    Journal: Am J Med Genet; 1991 Dec 15; 41(4):517-20. PubMed ID: 1663704.
    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.
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