Kobrin J L, Ternand C L, Knobloch W H, Johnson D D
University of Minnesota, Minneapolis.
Ophthalmic Paediatr Genet. 1990 Dec;11(4):299-303. doi: 10.3109/13816819009015717.
Previous reports have described the diversity of the phenotypic expression of the Laurence-Moon and Bardet-Biedl syndrome. This report describes two brothers whose features include the previously unreported defect of oligodontia in addition to retinitis pigmentosa, hypogenitalism, strabismus, short stature, and developmental delay. The reports over the last century have emphasized the varied expression from family to family and even differences among members of the same family. This report broadens the already pleomorphic nature of this syndrome.
先前的报告已经描述了劳伦斯-穆恩综合征和巴德-比德尔综合征表型表达的多样性。本报告描述了两兄弟，他们的特征包括除色素性视网膜炎、生殖器发育不全、斜视、身材矮小和发育迟缓外，还有此前未报道的少牙症缺陷。过去一个世纪的报告强调了该综合征在不同家族之间表现各异，甚至同一家庭中成员之间也存在差异。本报告进一步拓展了该综合征本已多样的特性。
