Patterns of primary and secondary defects associated with non-syndromic cleft lip and palate: An epidemiological analysis in a Kenyan population [0.03%]
肯尼亚人群非综合征唇腭裂原发和继发畸形的流行病学分析及模式研究
Martin Kamau,Krishan Sarna,Symon Guthua et al.
Martin Kamau et al.
Cleft lip and palate deformities substantially burden individuals and families, particularly in low-income communities. However, a comprehensive understanding of the patterns and distribution of these deformities in Kenya remains limited. T...
Difficulties in disclosing secondary findings by facilities performing comprehensive germline genetic testing for rare diseases in Japan [0.03%]
日本罕见病全外显子组遗传检测中二级发现披露的挑战与对策
Kana Hiromoto,Takahiro Yamada,Mio Tsuchiya et al.
Kana Hiromoto et al.
In Japan, a limited number of laboratories perform comprehensive genetic testing for rare diseases; this study investigated the attitudes of these laboratories toward the disclosure of secondary finding (SF). Following a preliminary survey,...
Congenital cardiac anomalies in non-syndromic cleft lip and cleft palate patients: A systematic review and meta-analysis [0.03%]
非综合征唇腭裂患者的先天性心脏病异常：系统回顾和meta分析
Bindey Kumar,Priyankar Singh,Alok Ranjan et al.
Bindey Kumar et al.
The aim was to establish a specific and definite connection between non-syndromic orofacial cleft patients and associated congenital heart disease (CHD). Following PRISMA guidelines, selective databases were searched for data collection. St...
Meta-Analysis
Congenital anomalies. 2024 May;64(3):143-154. DOI:10.1111/cga.12567 2024
Undiagnosed rare disease clinic identifies a novel UBE3A variant in two sisters with Angelman syndrome: The end of a diagnostic odyssey [0.03%]
未诊断的罕见病门诊在两位安格曼综合征姐妹中识别出UBE3A新突变：一段漫长求索的结束
Rebecca Bruns,Khurram Liaqat,Abdul Nasir et al.
Rebecca Bruns et al.
Angelman syndrome (AS, MIM #105830) is a neurodevelopmental disorder characterized by severe intellectual disability, profound developmental delay, movement or balance problems, an excessively cheerful disposition, and seizures. AS results ...
Case Reports
Congenital anomalies. 2024 May;64(3):155-160. DOI:10.1111/cga.12566 2024
Haojie Xu,Dongbo Liu
Haojie Xu
Prenatal diagnosis, pregnancy determination and follow up of sex chromosome aneuploidy screened by non-invasive prenatal testing from 122 453 unselected singleton pregnancies: A retrospective analysis of 7-year experience [0.03%]
非整倍体性染色体的非侵入产前筛查的产前诊断，妊娠确定和随访分析——来自122453例未经选择的单胎妊娠的大样本七年回顾性分析研究
Xiaojin Luo,Weiqiang Liu,Liang Hu et al.
Xiaojin Luo et al.
The phenotype of SCA patients are diversities, make prenatal counseling and parental decision-making following the prenatal diagnosis of SCA more complicated and challenging. NIPT has higher sensitivity and specificity in screening trisomy ...
Risk of major birth defects after first-trimester exposure to carbocisteine and ambroxol: A multicenter prospective cohort study using counseling data for drug safety during pregnancy [0.03%]
妊娠早期暴露于卡搏替酯和氨溴索后出现重大出生缺陷的风险：使用妊娠期药物安全咨询数据的多中心前瞻性队列研究
Mariko Usuda,Seung Chik Jwa,Mikako Goto et al.
Mariko Usuda et al.
To assess the risk of major birth defects after first-trimester exposure to carbocisteine and ambroxol during pregnancy, we conducted a prospective cohort study using counseling data for drug use during pregnancy provided by the Japan Drug ...
Multicenter Study
Congenital anomalies. 2024 May;64(3):91-98. DOI:10.1111/cga.12557 2024
Multiple hepatoblastomas with positive β-catenin immunostaining as a potential indication for germline APC genetic testing: A case report [0.03%]
多个肝母细胞瘤伴有β-连环素免疫阳性染色作为进行APC基因遗传检测的潜在指标：病例报告
Takeshi Sato,Chihiro Takata,Jumpei Ito et al.
Takeshi Sato et al.
Case Reports
Congenital anomalies. 2024 May;64(3):161-163. DOI:10.1111/cga.12556 2024
Effect of valproic acid on the formation and migration of cranial neural crest cells at the early developmental stages in rat embryos [0.03%]
丙戊酸对大鼠胚胎发育早期颅神经嵴细胞形成和迁移的影响
Reiko Suzuki,Hajime Imai
Reiko Suzuki
Cranial neural crest cells (NCCs) are critical for craniofacial development. The administration of valproic acid (VPA) to pregnant females causes craniofacial malformations in offspring. However, the in vivo influence of VPA on mammalian cr...
Early prenatal diagnosis of spondylocostal dysostosis caused by a novel variant in MESP2 [0.03%]
MESP2基因新变异导致的早孕期脊柱肋骨发育不良的早期产前诊断
Yanhong Zhou,Guilan Chen,Fucheng Li et al.
Yanhong Zhou et al.