Kreiborg S, Jensen B L
Scand J Dent Res. 1977 Mar;85(3):175-84. doi: 10.1111/j.1600-0722.1977.tb00551.x.
Three individuals in two generations affected with Crouzon's syndrome are reported. The proband, a 10-year-old boy, had been diagnosed until the age of 4. His 3-year-old sister had not been diagnosed previously and his mother was unaware of having the syndrome and had never received any genetic counseling. The individuals are reported with emphasis on clinical and roentgencephalometric variation. The ultimate goal in teratolgoy is prevention. Currently one of the most important factors related to prevention is genetic counseling in conditions with well-documented modes of inheritance. The present report describes how the variable expressivity of Crouzon's syndrome within a family had caused diagnostic problems and consequently had delayed genetic counseling.
本文报告了两代人中受克鲁宗综合征影响的三名个体。先证者是一名10岁男孩，4岁时被诊断出患有该疾病。他3岁的妹妹此前未被诊断出患病，他的母亲也不知道自己患有该综合征，从未接受过任何遗传咨询。报告这些个体时重点关注了临床和头颅X线测量的差异。致畸学的最终目标是预防。目前，与预防相关的最重要因素之一是在具有明确遗传模式的疾病中进行遗传咨询。本报告描述了克鲁宗综合征在一个家族中的可变表达性如何导致诊断问题，进而延误了遗传咨询。
