Congenital Anomalies最新文献_第2页

Congenital three generation wide familial non-syndromic polydactyly 先天性三代宽家族性非综合症多指畸形。

IF 1.3 4区医学

Congenital Anomalies Pub Date : 2024-07-06 DOI: 10.1111/cga.12578

Özgür Agdoğan

{"title":"Congenital three generation wide familial non-syndromic polydactyly","authors":"Özgür Agdoğan","doi":"10.1111/cga.12578","DOIUrl":"10.1111/cga.12578","url":null,"abstract":"Polydactyly is typically observed as isolated and sporadic occurrences, although familial cases do exist, albeit with lower frequency, manifesting in various inheritance patterns. In around 30% of polydactyly cases, there exists a familial history, suggesting the probable involvement of a single gene. Given its potential for hereditary transmission, thorough investigation of the patients' parents, first-degree relatives, grandparents, and even great-grandparents for similar disorders becomes imperative. In our clinic, we conducted an analysis focusing on patients presenting with foot polydactyly, along with occurrences of polydactyly among their first- and second-degree relatives spanning two to three generations of family history. The study encompassed three patients and their respective families, including a pair of siblings. We speculate that the inheritance type in our cases was autosomal dominant. Among our patients, one presented with central polydactyly, while the remaining patients and all familial cases displayed postaxial polydactyly. In terms of morphologic classification, one patient had a Y-shaped metatarsal, another had a T-shaped metatarsal, and the third patient exhibited a duplicated ray-shaped anomaly. In our review of the literature, we haven't come across a case spanning three generations like the ones we encountered. Additionally, the presence of a transverse accessory extensor tendon between both extensor tendons in cases with T- and Y-shaped metatarsals intrigued us from an anatomical perspective. Our goal is to present these rare cases of congenital familial polydactyly spanning three generations, highlighting the anatomical variations observed and aiming to contribute to the existing body of literature on the subject.","PeriodicalId":10626,"journal":{"name":"Congenital Anomalies","volume":"64 6","pages":"228-234"},"PeriodicalIF":1.3,"publicationDate":"2024-07-06","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"141545648","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":4,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

引用次数: 0

Pregnancy outcomes after first-trimester exposure to fluoroquinolones: Findings based on an integrated database from two Japanese institutions 第一孕期接触氟喹诺酮类药物后的妊娠结局：根据日本两家医疗机构的综合数据库得出的结论。

IF 1.3 4区医学

Congenital Anomalies Pub Date : 2024-06-27 DOI: 10.1111/cga.12577

Mikako Goto, Tatsuhiko Anzai, Ritsuko Yamane, Naho Yakuwa, Kunihiko Takahashi, Atsuko Murashima

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引用次数: 0

Frequency of gastroschisis and omphalocele and possible influence of maternal folic acid supplementation. A narrative review 胃畸形和卵圆畸形的发病率以及母体补充叶酸可能产生的影响。综述。

IF 1.3 4区医学

Congenital Anomalies Pub Date : 2024-06-19 DOI: 10.1111/cga.12576

Laura González-Ramos, Elena Martínez-Sanz, Moisés García-Serradilla, Miquel García-de-Pereda, Estela Maldonado

{"title":"Frequency of gastroschisis and omphalocele and possible influence of maternal folic acid supplementation. A narrative review","authors":"Laura González-Ramos, Elena Martínez-Sanz, Moisés García-Serradilla, Miquel García-de-Pereda, Estela Maldonado","doi":"10.1111/cga.12576","DOIUrl":"10.1111/cga.12576","url":null,"abstract":"There is an increase in the worldwide prevalence of congenital abdominal wall defects (CAWD), with gastroschisis (GS) and omphalocele (OC) being the most common. It is widely accepted that folic acid supplementation (FAS) in the maternal diet decreases the incidence of anomalies such as neural tube defects, but there is controversy regarding the possible beneficial role for other congenital malformations. Several epidemiological studies raise controversy regarding a possible relationship between vitamin supplementation with the occurrence of abdominal wall malformations. The aim of the present study is to obtain an updated review of the global frequency of CAWD in neonates and the relationship with FAS in the mothers. For this we have carried out a systematic search of epidemiological studies in different article databases between 2011 and 2022. The analysis of 25 studies conducted in different countries where cases of OC and/or GS are registered directly or together with other congenital defects shows that 60% inquire into the relationship of FAS with the incidence of CAWD. Half of them proposes a beneficial effect of FAS and the other half find no association, concluding that there is no unanimous evidence that FAS in the maternal diet decreases the incidence of CAWD. However, it seems that an influential factor to take into account is the nutritional habits of the mothers.","PeriodicalId":10626,"journal":{"name":"Congenital Anomalies","volume":"64 5","pages":"190-198"},"PeriodicalIF":1.3,"publicationDate":"2024-06-19","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://onlinelibrary.wiley.com/doi/epdf/10.1111/cga.12576","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"141428564","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":4,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

引用次数: 0

Correction to “An easy-to-use semi-automatic volumetric evaluation for secondary bone grafting in patients with unilateral alveolar cleft” 更正 "单侧牙槽骨裂患者二次植骨的易用半自动体积评估"。

IF 1.3 4区医学

Congenital Anomalies Pub Date : 2024-06-17 DOI: 10.1111/cga.12575

引用次数: 0

Response to “An easy-to-use semi-automatic volumetric evaluation for secondary bone grafting in patients with unilateral alveolar cleft”—“Misinterpreted facial foramen” 对 "单侧牙槽骨裂患者二次植骨的简易半自动容积评估"--"被误读的面孔 "的回应

IF 1.3 4区医学

Congenital Anomalies Pub Date : 2024-05-30 DOI: 10.1111/cga.12574

Sanjanaa Kapoor, Godwin Alex Kiruba

引用次数: 0

Expectant management of pregnancy involving fetus with lower urinary tract obstruction 对患有下尿路梗阻的胎儿进行孕期管理。

IF 1.3 4区医学

Congenital Anomalies Pub Date : 2024-05-15 DOI: 10.1111/cga.12572

Takao Kobayashi, Sota Iwatani, Hitomi Mimura, Seiji Yoshimoto

引用次数: 0

Upper airway obstruction due to congenital epiglottic cyst: Report of two cases 先天性会厌囊肿导致上气道阻塞：两个病例的报告。

IF 1.3 4区医学

Congenital Anomalies Pub Date : 2024-05-08 DOI: 10.1111/cga.12571

Kensuke Uraguchi, Yuichiro Otsuka, Hidenori Marunaka, Mizuo Ando

引用次数: 0

Long-term follow-up for the atypical radial longitudinal deficiency: A case report 非典型桡骨纵向缺损的长期随访：病例报告。

IF 1.3 4区医学

Congenital Anomalies Pub Date : 2024-04-25 DOI: 10.1111/cga.12570

Hiroshi Satake, Ryuji Takeuchi, Yasushi Naganuma, Toshiya Nito, Naomi Hanaka, Junichiro Shibuya, Masahiro Maruyama, Ryusuke Honma, Michiaki Takagi

引用次数: 0

A novel variant in IFT122 associated with a severe phenotype of cranioectodermal dysplasia 与颅骨外胚层发育不良严重表型相关的 IFT122 新变体

IF 1.3 4区医学

Congenital Anomalies Pub Date : 2024-04-18 DOI: 10.1111/cga.12569

Shiho Nagayama, Hironori Takahashi, Fuyuki Hasegawa, Asuka Hori, Sho Kizami, Rieko Furukawa, Kenji Horie, Manabu Ogoyama, Kenichiro Hata, Hiroyuki Fujiwara

引用次数: 0

Ultrasound and magnetic resonance imaging features of fetal urogenital anomalies: A pictorial essay 胎儿泌尿生殖系统畸形的超声和磁共振成像特征：图解文章

IF 1.3 4区医学

Congenital Anomalies Pub Date : 2024-04-08 DOI: 10.1111/cga.12568

Behnaz Moradi, Mohammad Hossein Golezar, Reihaneh Mortazavi Ardestani, Sara Hassanzadeh, Payam Jannatdoust, Masoumeh Banihashemian, Nasim Batavani

引用次数: 0