A homozygous variant in ABCA3 is associated with severe respiratory distress and early neonatal death [0.03%]
ABCA3同型突变与严重呼吸窘迫和新生儿早期死亡有关
Montaha Al-Iede,Mariam Khanfar,Luma Srour et al.
Montaha Al-Iede et al.
A novel variant in the DSE gene leads to Ehlers-Danlos musculocontractural type 2 in a Pakistani family [0.03%]
DSE基因的新变异导致巴基斯坦一家系的肌肉收缩性型Ⅱ型埃勒斯-丹洛斯综合征
Ikram Ullah,Muhammad Aamir,Muhammad Ilyas et al.
Ikram Ullah et al.
The Ehlers-Danlos syndrome (EDS) is a group of heritable connective tissue disorders. Common features of EDS include skin hyperextensibility, articular hypermobility, and tissue fragility. It is classified into 13 subtypes, caused by variat...
Case Reports
Congenital anomalies. 2021 Sep;61(5):177-182. DOI:10.1111/cga.12436 2021
Noonan syndrome-like phenotype in a patient with heterozygous ERF truncating variant [0.03%]
ERF截短变异杂合子患者的努南综合征样表型
Mamiko Yamada,Michinori Funato,Goro Kondo et al.
Mamiko Yamada et al.
Craniosynostosis is caused by abnormalities of multiple signaling pathways, including excessive RAS signaling. Recently, a truncating variant in ETS2 repressor factor (ERF), a negative transcriptional regulator of the RAS pathway, was shown...
Case Reports
Congenital anomalies. 2021 Nov;61(6):226-230. DOI:10.1111/cga.12435 2021
Two cases of cytochrome P450 oxidoreductase deficiency with severe scoliosis and surgery requirement [0.03%]
两例重度脊柱侧凸的细胞色素P450氧化还原酶缺陷症患者及其手术治疗
Takanori Onuki,Yoshiaki Ohtsu,Shota Hiroshima et al.
Takanori Onuki et al.
A comparison of the maternal levels of serum proprotein convertase subtilisin/kexin type 9 in pregnant women with the complication of fetal open neural tube defects [0.03%]
胎儿开颅型神经管缺陷孕妇血清前蛋白转化酶枯草杆菌肽九样物质水平变化及临床意义
Seyit Ahmet Erol,Atakan Tanacan,Esra Firat Oguz et al.
Seyit Ahmet Erol et al.
It was aimed to evaluate the levels of maternal serum proprotein convertase subtilisin/kexin type 9 (PCSK9) in pregnant women with a fetus diagnosed with open neural tube defects (NTDs). This case-control study included 38 pregnant women ca...
Jejunal infantile fibrosarcoma: An unusual cause of neonatal intestinal obstruction [0.03%]
婴儿型回肠纤维肉瘤：新生儿肠道梗阻的不常见原因
Mostafa Kotb,Ahmed Aboelela,Ahmed Eshiba et al.
Mostafa Kotb et al.
Metacarpophalangeal profile pattern analysis in a further patient with a novel ARID1B variant [0.03%]
ARID1B新变异患者的另一例元 carpophalangeal 表型分析
Giulia Pascolini
Giulia Pascolini
Acral clinical and radiographic characteristics of a further patient with Coffin-Siris syndrome (CSS), which is caused by mutations in the ARID1B gene, encoding a subunit of the BAF-complex, are here described. Metacarpophalangeal profile p...
Case Reports
Congenital anomalies. 2021 Sep;61(5):193-196. DOI:10.1111/cga.12431 2021
Association between maternal smoking history and congenital anomalies in children: Results from the Japan Environment and Children's Study [0.03%]
基于日本环境与儿童研究计划探讨母亲吸烟史与后代先天畸形之间的关系
Akiko Tsuchida,Kei Hamazaki,Mika Kigawa et al.
Akiko Tsuchida et al.
We investigated the relationship between maternal smoking history and congenital anomalies in children. Drawing on data from the Japan Environment and Children's Study collected between January 2011 and March 2014, the smoking habits of pre...
MTHFR C677T and A1298C variants in Mexican Mestizo infants with neural tube defects from Western Mexico [0.03%]
墨西哥梅斯蒂索婴儿中叶酸代谢基因多态性与神经管缺陷的关系研究
Cristian Irela Aranda-Sánchez,Lucina Bobadilla-Morales,Alfredo Corona-Rivera et al.
Cristian Irela Aranda-Sánchez et al.
Our study investigated the role of MTHFR C677T and A1298C variants in infants with neural tube defects (NTDs) from western Mexico. Using TaqMan allelic discrimination assay, we genotyped 101 live-born patients with NTDs (cases) and 247 cont...
Craniofacial microsomia: Reflections on diagnosis and severity assessment based on a series of cases [0.03%]
颅面小耳症：一系列病例的诊断和严重程度评估的思考
Luna Lira Bergamini,Samira Spineli-Silva,Têmis Maria Félix et al.
Luna Lira Bergamini et al.
This study aims to discuss diagnostic criteria and severity assessment for craniofacial microsomia (CFM). A series of 61 patients with diverse CFM phenotypes had their clinical data collected by experienced dysmorphologists using a single p...