Lajeunie E, Le Merrer M, Bonaïti-Pellie C, Marchac D, Renier D
U 393 INSERM, Paris, France.
Am J Med Genet. 1995 Feb 13;55(4):500-4. doi: 10.1002/ajmg.1320550422.
From a series of 1265 individuals with different craniosynostoses hospitalized between 1976 and 1993, 260 probands with nonsyndromic unilateral (181) or bilateral (79) coronal synostosis were analysed. The prevalence of craniosynostoses was estimated as 1 in 2100 children. In the group of coronal synostosis, family history was obtained on 192 probands in 180 pedigrees. The male:female ratio was 1:2. The average paternal age was 32.7 +/- 6.4 years, which is significantly higher than normal. In 26 of the 180 pedigrees, a high degree of familial aggregation was observed, giving a 14.4% figure of familial cases. The bicoronal synostoses were significantly more often familial than the unicoronal synostoses. Segregation analysis of these families leads to the conclusion that coronal synostosis is transmitted as a dominant disorder with 0.60 penetrance and 61% of sporadic cases.
在1976年至1993年间住院的1265例患有不同颅缝早闭症的患者中，分析了260例患有非综合征性单侧（181例）或双侧（79例）冠状缝早闭症的先证者。颅缝早闭症的患病率估计为每2100名儿童中有1例。在冠状缝早闭症组中，对180个家系中的192例先证者进行了家族史调查。男女比例为1:2。父亲的平均年龄为32.7±6.4岁，显著高于正常水平。在180个家系中的26个家系中，观察到高度的家族聚集性，家族性病例占14.4%。双侧冠状缝早闭症比单侧冠状缝早闭症更常具有家族性。对这些家系的分离分析得出结论，冠状缝早闭症作为一种显性疾病遗传，外显率为0.60，散发性病例占61%。
