Fryns J P, Buttiens M
Centre for Human Genetics, University of Leuven Hospital, Belgium.
Am J Med Genet. 1987 Oct;28(2):267-74. doi: 10.1002/ajmg.1320280202.
Here we report on two pairs of mildly to moderately mentally retarded brothers with marfanoid habitus and similar craniofacial changes. They had a long and narrow face, small mandible, high-arched palate, and hypernasal voice, as previously reported by Lujan et al (Am J Med Genet 17:311-322, 1984) in four mentally retarded males of a large kindred. The present data suggest the existence of a specific type of X-linked mental retardation with marfanoid habitus.
在此,我们报告两对患有类马凡氏体型且有相似颅面改变的轻度至中度智力发育迟缓的兄弟。他们面部狭长、下颌小、腭弓高且语音呈鼻音过重,如Lujan等人(《美国医学遗传学杂志》17:311 - 322, 1984)之前在一个大家族的四名智力发育迟缓男性中所报道的那样。目前的数据表明存在一种伴有类马凡氏体型的特定类型的X连锁智力发育迟缓。