Spaepen A, Schrander-Stumpel C, Fryns J P, de Die-Smulders C, Borghgraef M, Van den Berghe H
Center for Human Genetics, University of Leuven, Belgium.
Am J Med Genet. 1991 Dec 15;41(4):517-20. doi: 10.1002/ajmg.1320410428.
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.
我们描述了3例患有哈勒曼-施特雷夫综合征的幼儿,其中2例有典型表现,1例面部有改变,但无眼部异常,有腭裂,且第四和第五指完全并指。后一例代表哈勒曼-施特雷夫综合征与眼齿指发育异常的重叠。文中讨论了“侏儒症”作为智力发育迟缓可能的临床风险标志物。作为病因,孟德尔常染色体显性突变似乎最有可能。