Interpreting changes in the epidemiology of anencephaly and spina bifida following folic acid fortification of the U.S. grain supply in the setting of long-term trends, Atlanta, Georgia, 1968-2003 [0.03%]
从长期趋势看美国谷物中添加叶酸前后无脑儿和脊柱裂流行病学特征变化的分析Atlanta，佐治亚州，1968-2003年
Lilah M Besser,Laura J Williams,Janet D Cragan
Lilah M Besser
Background: The prevalence of anencephaly (AN) and spina bifida (SB) was declining long before fortification of enriched grains in the U.S. with folic acid. We examined whether changes in these defects surrounding fortifi...
Experimental induction of palate shelf elevation in glutamate decarboxylase 67-deficient mice with cleft palate due to vertically oriented palatal shelf [0.03%]
谷氨酸脱羧酶67缺陷小鼠垂直向上的腭突导致腭裂的实验诱导
Sachiko Iseki,Masako Ishii-Suzuki,Naoko Tsunekawa et al.
Sachiko Iseki et al.
Background: Gamma-aminobutyric acid is an inhibitory neurotransmitter, synthesized by two isoforms of glutamate decarboxylase (GAD), GAD65 and -67. Unexpectedly, inactivation of GAD67 induces cleft palate in mice. Reducti...
Nutrient intakes in women and risks of anophthalmia and microphthalmia in their offspring [0.03%]
妇女营养摄入与胎儿无眼症和小眼症风险的关系
Gary M Shaw,Suzan L Carmichael,Cecile Laurent et al.
Gary M Shaw et al.
Background: There is a paucity of information about risk factors for the human eye anomalies anophthalmia and microphthalmia. In this population-based case-control study we investigated whether periconceptional intakes of...
Lee Hilary Goldstein,Galit Dolinsky,Revital Greenberg et al.
Lee Hilary Goldstein et al.
Background: Azathioprine (AZP) interferes with nucleic acid synthesis and is teratogenic in animals. In view of the paucity of information on the use of AZP during pregnancy we investigated this subject in a prospective, ...
Pai syndrome: first patient with agenesis of the corpus callosum and literature review [0.03%]
派氏综合征：第一例胼胝体发育不全病例及文献综述
Marco Castori,Rosanna Rinaldi,Aurelia Bianchi et al.
Marco Castori et al.
Background: Pai syndrome (PS) is a rare regional developmental defect of the face, mainly characterized by the variable association of midline cleft of the upper lip (MCL), duplicated maxillary median frenulum, and midlin...
Aplasia cutis congenita with skull defect in a monozygotic twin after exposure to methimazole in utero [0.03%]
宫内接触他巴唑的单卵双生子之一患有颅骨缺陷先天性皮肤缺损症
Hideyuki Iwayama,Haruki Hosono,Hikaru Yamamoto et al.
Hideyuki Iwayama et al.
Background: Aplasia cutis congenita (ACC) is a condition in which localized or widespread areas of skin are absent at birth. Defective lesions show complete absence of all layers of skin, occasionally extending to skull o...
High prevalence of NTDs in Shanxi Province: a combined epidemiological approach [0.03%]
山西省神经管畸形高发：流行病学综合研究方法及其结果分析
Xue Gu,Liangming Lin,Xiaoying Zheng et al.
Xue Gu et al.
Background: Shanxi Province has historically reported a high prevalence of NTDs. In order to establish baseline rates for NTDs and discuss the risk factors associated with sociodemographic, maternal characteristics, and g...
Seeking causes: Classifying and evaluating congenital heart defects in etiologic studies [0.03%]
病因探索：先天性心脏病的病因研究中的分类与评估
Lorenzo D Botto,Angela E Lin,Tiffany Riehle-Colarusso et al.
Lorenzo D Botto et al.
Background: Classification and analysis of congenital heart defects (CHD) in etiologic studies is particularly challenging because of diversity of cardiac phenotypes and underlying developmental mechanisms. We describe an...
Prevalence of hypospadias in the same geographic region as ascertained by three different registries [0.03%]
依托三个不同登记系统所得出的同一地理区域内尿道下裂患病率的不同结论
Paul Nelson,Mark Nieuwenhuijsen,Tina Kold Jensen et al.
Paul Nelson et al.
Hypospadias birth prevalence may be increasing with maternal exposure to endocrine disrupters. Yet hypospadias registers are hindered by data quality concerns. We compare the birth prevalence per thousand male births (BP) and ascertainment ...
Mario A Cleves,Charlotte A Hobbs,Phillip A Cleves et al.
Mario A Cleves et al.
Background: Many infants with Down syndrome (DS) have co-occurring congenital malformations requiring intensive surgical and medical management. To anticipate the care needed by these infants, providers and parents requir...