Morava E, Storcz J, Kosztolányi G
Department of Pediatrics, University Medical School, Pécs, Hungary.
Am J Med Genet. 1996 Jul 12;64(1):59-62. doi: 10.1002/(SICI)1096-8628(19960712)64:1<59::AID-AJMG8>3.0.CO;2-M.
We report on 3 brothers with growth and mental retardation, bifrontal narrowness, short palpebral fissures, deeply set eyes with entropion, wide bulbous nose, small mouth, myopia, and spastic diplegia. The patients were born to normal and non-consanguineous parents. The similarity of our cases with those recently reported by Brooks et al. [Am J Med Genet 51:586-590, 1994] supports their suggestion that these patients are representative of a distinct entity.
我们报告了3名患有生长发育迟缓和智力障碍的兄弟,他们存在双额狭窄、睑裂短小、眼球深陷伴睑内翻、宽球根状鼻、小嘴、近视和痉挛性双侧瘫。这些患者的父母正常且非近亲结婚。我们的病例与布鲁克斯等人最近报道的病例[《美国医学遗传学杂志》51:586 - 590, 1994]相似,这支持了他们的观点,即这些患者代表了一种独特的疾病实体。