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本病由1912年法国医师Crouzon最初记载,故名为Crouzon＇s病。1937年At-kmson＇s报告本综合征86例。以后相续国内外屡见报道,但尚无四代家族性遗传性家系病例报告,我院调查发现的一家系四代中,2支,21人,罹患此病,病例典型,特报告如下: 例Ⅰ:Ⅳ_(11)(先证者)男,11岁,于1983年5月20日来我院就诊。患者出生后(足月、顺产),双眼突出,闭眼困难,8岁时双目失明。曾到外地诊断为视神经萎缩。经了解家族史,其祖先(爷爷、奶奶、父亲、姑姑)以及弟兄姊妹均患有此病,世代相传。而做家系调查。家系调查结果见下图
The disease was first documented by the French physician Crouzon in 1912 and was named Crouzon’s disease. In 1937, At-kmson’s reported 86 cases of this syndrome. Followed by frequent reports at home and abroad, but no four-generation family history of hereditary pedigree cases, our hospital found a family of four generations, 2, 21 people suffering from the disease, the typical case, the special report is as follows: Example I: Ⅳ_ (11) (proband) male, 11 years old, came to our hospital on May 20, 1983. Patients after birth (full-term, natural delivery), eyes prominent, eyes closed difficulties, blind eyesight at the age of 8. Have been diagnosed with optic atrophy outside the field. After understanding the family history, its ancestors (grandfather, grandmother, father, aunt) and brothers and sisters are suffering from the disease, from generation to generation. Do family investigation. Family survey results shown below