Parloir C, Fryns J P, Deroover J, Lebas E, Goffaux P, van den Berghe H
Clin Genet. 1977 Nov;12(5):263-6. doi: 10.1111/j.1399-0004.1977.tb00939.x.
A possibly new mental retardation syndrome is described in a large family. The major features of the syndrome are: short statue, craniofacial dysmorphism and dento-skeletal abnormalities. The mode of inheritance of this syndrome appears to be autosomal dominant with a variable degree of expressivity. The possible similarity to another autosomally dominant inherited mental retardation syndrome, "the K.B.G. syndrome" as described by Hermann et al. (1975), is discussed.
在一个大家庭中描述了一种可能的新型智力发育迟缓综合征。该综合征的主要特征为:身材矮小、颅面畸形和牙骨骼异常。此综合征的遗传模式似乎是常染色体显性遗传,具有不同程度的表现度。文中讨论了该综合征与另一种常染色体显性遗传智力发育迟缓综合征——由赫尔曼等人(1975年)描述的“K.B.G.综合征”——可能存在的相似性。