Boulet Sheree L, Rasmussen Sonja A, Honein Margaret A
National Center on Birth Defects and Developmental Disabilities, Centers for Disease Control and Prevention, Atlanta, Georgia 30333, USA.
Am J Med Genet A. 2008 Apr 15;146A(8):984-91. doi: 10.1002/ajmg.a.32208.
Craniosynostosis is a birth defect characterized by premature fusion of one or more cranial sutures. We describe the birth prevalence of craniosynostosis and related risk factors among infants born to residents of metropolitan Atlanta during 1989-2003. Data from the Metropolitan Atlanta Congenital Defects Program (MACDP) were used to identify infants with craniosynostosis. Case records with a code for craniosynostosis were reviewed to substantiate the diagnosis of craniosynostosis and to classify infants as having isolated craniosynostosis (no other unrelated major defects), multiple defects (one or more additional major, unrelated defects), or a syndrome (recognized or strongly suspected single-gene condition or chromosome abnormality). Vital records data on births of Georgia residents were used to analyze craniosynostosis prevalence by year of birth, maternal race and age, parity, plurality, and infants' sex, birth weight, and gestational age. We identified 281 infants born with craniosynostosis in metropolitan Atlanta during 1989-2003: 84% with isolated craniosynostosis, 7% with multiple defects, and 9% with syndromes. The birth prevalence was 4.3 per 10,000 births, results consistent with findings from other population-based studies using similar case definitions. Apert syndrome was diagnosed in 40% of the syndromic cases, and sagittal synostosis was diagnosed in 39% of the cases of nonsyndromic craniosynostosis. Maternal age 35 years or older, multiple birth, male sex, and birth weight >4,000 g were risk factors for craniosynostosis.
颅缝早闭是一种出生缺陷，其特征为一条或多条颅缝过早融合。我们描述了1989年至2003年期间亚特兰大大都市地区居民所生婴儿中颅缝早闭的出生患病率及相关风险因素。利用亚特兰大大都市先天性缺陷项目（MACDP）的数据来识别患有颅缝早闭的婴儿。对有颅缝早闭编码的病例记录进行审查，以证实颅缝早闭的诊断，并将婴儿分类为患有孤立性颅缝早闭（无其他不相关的主要缺陷）、多发缺陷（一种或多种其他主要的、不相关的缺陷）或综合征（已确认或强烈怀疑的单基因疾病或染色体异常）。利用佐治亚州居民出生的生命记录数据，按出生年份、母亲种族和年龄、产次、多胎情况以及婴儿性别、出生体重和孕周来分析颅缝早闭的患病率。我们在1989年至2003年期间识别出281名在亚特兰大大都市出生时患有颅缝早闭的婴儿：84%患有孤立性颅缝早闭，7%患有多发缺陷，9%患有综合征。出生患病率为每10000例出生中有4.3例，结果与其他使用类似病例定义的基于人群的研究结果一致。在40%的综合征病例中诊断出Apert综合征，在39%的非综合征性颅缝早闭病例中诊断出矢状缝早闭。母亲年龄35岁及以上、多胎、男性以及出生体重>4000g是颅缝早闭的风险因素。
