Congenital Anomalies最新文献

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Paper box fixation for femur fractures in an infant with osteogenesis imperfecta 纸盒内固定治疗婴儿成骨不全性股骨骨折1例
IF 1.3 4区 医学
Congenital Anomalies Pub Date : 2022-09-18 DOI: 10.1111/cga.12495
Takeshi Sato, Satsuki Nakano, Arihiko Kanaji, Tomohiro Ishii, Tomonobu Hasegawa
{"title":"Paper box fixation for femur fractures in an infant with osteogenesis imperfecta","authors":"Takeshi Sato, Satsuki Nakano, Arihiko Kanaji, Tomohiro Ishii, Tomonobu Hasegawa","doi":"10.1111/cga.12495","DOIUrl":"10.1111/cga.12495","url":null,"abstract":"Osteogenesis imperfecta (OI) is a congenital disorder characterized by fragile bones. Infants with OI often develop fractures during daily care even when caution is exercised. When splints or casts are used to treat fractures in infants with OI, additional splint- or cast-associated fractures may occur owing to the bone fragility. 1 To date, safe methods of fixation without the use of splints or casts have not been established. 2,3 Here, we present our method of fixing femur fractures in an infant with OI using a paper box. Our patient was detected with short lower limbs at approximately 18 gestational weeks by routine ultrasonography. She was born at 37 gestational weeks by elective cesarean section. She was diagnosed with OI type IV based on radiological findings, which included retarded ossification of the cranial vault, generalized demineralization, slender long bones, and bowing of long bones with microfractures. Pamidronate","PeriodicalId":10626,"journal":{"name":"Congenital Anomalies","volume":null,"pages":null},"PeriodicalIF":1.3,"publicationDate":"2022-09-18","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"10843803","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
Imaging characteristics of the gubernaculum tracts in successional teeth related to deciduous fused teeth on computed tomography 乳牙融合牙相关连续牙管束的计算机断层成像特征
IF 1.3 4区 医学
Congenital Anomalies Pub Date : 2022-09-18 DOI: 10.1111/cga.12493
Masafumi Oda, Ikuko Nishida, Katsura Saeki, Tatsurou Tanaka, Shinobu Matsumoto-Takeda, Nao Wakasugi-Sato, Manabu Habu, Yutaro Nagasaki, Daigo Yoshiga, Masaaki Sasaguri, Yasuhiro Morimoto
{"title":"Imaging characteristics of the gubernaculum tracts in successional teeth related to deciduous fused teeth on computed tomography","authors":"Masafumi Oda,&nbsp;Ikuko Nishida,&nbsp;Katsura Saeki,&nbsp;Tatsurou Tanaka,&nbsp;Shinobu Matsumoto-Takeda,&nbsp;Nao Wakasugi-Sato,&nbsp;Manabu Habu,&nbsp;Yutaro Nagasaki,&nbsp;Daigo Yoshiga,&nbsp;Masaaki Sasaguri,&nbsp;Yasuhiro Morimoto","doi":"10.1111/cga.12493","DOIUrl":"10.1111/cga.12493","url":null,"abstract":"<p>The purpose of this study was to elucidate the imaging characteristics of the gubernaculum tracts in successional teeth related to fused deciduous teeth on computed tomography. The imaging findings of 15 gubernaculum tracts in successional teeth related to fused deciduous teeth were retrospectively analyzed using cone-beam computed tomography or multidetector computed tomography. In cases without a congenitally defected successor, the two gubernaculum tracts of two successional teeth related to fused deciduous teeth were fused into one. Gubernaculum tracts (GTs) in mesial successors were vertical, but in distal successors they were inclined to mesial. The major abnormalities of the successional teeth related to fused deciduous teeth were delayed eruption and delayed formation. No inclined mesial successors were found, whereas most of the distal successors were inclined to mesial along with the inclined GT. The gubernaculum tracts of successors with a congenital defect of the other successors were vertical, and such successors had no abnormalities. The present study showed the imaging characteristics of gubernaculum tracts in successional teeth related to fused deciduous teeth. The abnormal eruption of successional teeth related to fused deciduous teeth may be associated with the characteristics of their gubernaculum tracts.</p>","PeriodicalId":10626,"journal":{"name":"Congenital Anomalies","volume":null,"pages":null},"PeriodicalIF":1.3,"publicationDate":"2022-09-18","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://ftp.ncbi.nlm.nih.gov/pub/pmc/oa_pdf/7c/e3/CGA-62-241.PMC9828054.pdf","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"10511370","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: 2
Comparison of CDHSG model and PCO2 in predicting mortality risk in patients with congenital diaphragmatic hernia CDHSG模型与PCO2预测先天性膈疝死亡风险的比较
IF 1.3 4区 医学
Congenital Anomalies Pub Date : 2022-08-30 DOI: 10.1111/cga.12491
Tülin Öztaş, Ahmet Dursun
{"title":"Comparison of CDHSG model and PCO2 in predicting mortality risk in patients with congenital diaphragmatic hernia","authors":"Tülin Öztaş,&nbsp;Ahmet Dursun","doi":"10.1111/cga.12491","DOIUrl":"10.1111/cga.12491","url":null,"abstract":"<p>Congenital diaphragmatic hernia (CDH) is one of the illnesses with high mortality and morbidity rates. The study aims to compare the Congenital Diaphragmatic Hernia Study Group (CDHSG) model and PCO<sub>2</sub> in determining the mortality risk of CDH in the early postnatal period in neonates. The data of 35 patients who were treated CDH were analyzed retrospectively. The sex, gestational age, birth weight, delivery method, presence of chromosomal anomaly, congenital cardiac and other anomalies, pulmonary hypertension, the 5-min Apgar score, PCO<sub>2</sub> values of blood gas in the first 24 h, mode of ventilation were recorded. According to the CDHSG model, the mortality risk of CDH was divided into three categories: as low, moderate, high risk. Based on the blood gases in the first 24 h after delivery, the CDH mortality risk was considered in two categories as low and high. Based on the CDHSG model, the risk of CDH mortality was low in 11.4%, moderate in 20%, and high in 68.6%. Mortality rates were 0%, 42.8%, and 83.3%, respectively. Based on the PaCO<sub>2</sub>, the risk of CDH mortality was low in 37.1% of patients and high in 62.8%. The mortality rate was 86.3% in high-severity patients and 30.7% in low-risk patients. No significant difference was found between the area under the curve values of the CDHSG model and PCO<sub>2</sub>. Especially in developing countries, in cases where opportunities are limited, the severity of the disease, the need for more aggressive treatment, and the need for higher-level intensive care can be determined with the easily accessible and low-cost blood gas PCO<sub>2</sub> at the bedside.</p>","PeriodicalId":10626,"journal":{"name":"Congenital Anomalies","volume":null,"pages":null},"PeriodicalIF":1.3,"publicationDate":"2022-08-30","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"33446934","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
Preoperative MRI presentations of Herlyn–Werner–Wunderlich syndrome herlin - werner - wunderlich综合征的术前MRI表现
IF 1.3 4区 医学
Congenital Anomalies Pub Date : 2022-08-08 DOI: 10.1111/cga.12489
Heng Zhang, Ying Zheng, Gang Ning, Chuan Fu, Li Bao
{"title":"Preoperative MRI presentations of Herlyn–Werner–Wunderlich syndrome","authors":"Heng Zhang,&nbsp;Ying Zheng,&nbsp;Gang Ning,&nbsp;Chuan Fu,&nbsp;Li Bao","doi":"10.1111/cga.12489","DOIUrl":"10.1111/cga.12489","url":null,"abstract":"<p>Herlyn–Werner–Wunderlich (HWW) syndrome is a rare complex female urogenital anomaly, with diverse anatomical presentations. Due to obstruction, most patients with HWW syndrome need to be addressed surgically. The treatment strategy should be tailored to the different anatomical variants of each patient. Therefore, a detailed and comprehensive preoperative evaluation is needed. In this review, we describe the embryology and clinical manifestations of HWW syndrome and discuss and illustrate its diverse preoperative magnetic resonance imaging presentations to guide clinical treatment.</p>","PeriodicalId":10626,"journal":{"name":"Congenital Anomalies","volume":null,"pages":null},"PeriodicalIF":1.3,"publicationDate":"2022-08-08","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"40680654","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: 1
Congenital cytomegalovirus infection with brainstem hemorrhage and polymicrogyria: Necropsic and histopathological findings 先天性巨细胞病毒感染合并脑干出血和多小回畸形:坏死和组织病理学结果
IF 1.3 4区 医学
Congenital Anomalies Pub Date : 2022-08-08 DOI: 10.1111/cga.12488
Javier Arredondo Montero, Mónica Bronte Anaut, María Cristina Caballero Martínez, Maria Pilar Fernández Seara, Nerea Martín-Calvo
{"title":"Congenital cytomegalovirus infection with brainstem hemorrhage and polymicrogyria: Necropsic and histopathological findings","authors":"Javier Arredondo Montero,&nbsp;Mónica Bronte Anaut,&nbsp;María Cristina Caballero Martínez,&nbsp;Maria Pilar Fernández Seara,&nbsp;Nerea Martín-Calvo","doi":"10.1111/cga.12488","DOIUrl":"10.1111/cga.12488","url":null,"abstract":"<p>Congenital cytomegalovirus (CMV) infection can cause severe neurological sequelae or even fetal death. We present a 17-year-old pregnant woman with fetal CMV infection, leading to voluntary termination of pregnancy. Fetopsy demonstrated a brainstem hemorrhage and focal polymicrogyria. CMV inclusions were observed in the lung, liver, thyroid, pancreas, kidneys, adrenal, placenta, and central nervous system. Intracranial hemorrhage is a rare finding in the context of congenital CMV infection, with isolated brainstem hemorrhage being an exceptional form of presentation. Polymicrogyria appears to be a more frequent finding, although its actual incidence is unknown. Future studies are needed to determine the causal association.</p>","PeriodicalId":10626,"journal":{"name":"Congenital Anomalies","volume":null,"pages":null},"PeriodicalIF":1.3,"publicationDate":"2022-08-08","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://onlinelibrary.wiley.com/doi/epdf/10.1111/cga.12488","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"10484534","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
Caroli's syndrome with autosomal recessive polycystic kidney disease on fetal MRI: A case report 胎儿MRI显示卡罗里综合征伴常染色体隐性多囊肾病1例
IF 1.3 4区 医学
Congenital Anomalies Pub Date : 2022-08-08 DOI: 10.1111/cga.12490
Vanita Baberwal, Anjali Prakash, Anju Garg, Sapna Singh, Sangeeta Gupta
{"title":"Caroli's syndrome with autosomal recessive polycystic kidney disease on fetal MRI: A case report","authors":"Vanita Baberwal,&nbsp;Anjali Prakash,&nbsp;Anju Garg,&nbsp;Sapna Singh,&nbsp;Sangeeta Gupta","doi":"10.1111/cga.12490","DOIUrl":"10.1111/cga.12490","url":null,"abstract":"A 21-year-old pregnant woman (gravida 1, abortion 0) with a his-tory of acrocyanosis and raised AST/ALT was referred for ultrasound assessment. The gestational age was 32 weeks according to LMP and 31 weeks 2 days as per biometry. USG revealed severe oligohydramnios with enlarged and echogenic bilateral kidneys (Figure 1A). The urinary bladder was not visualized. Fetal liver showed a single small cystic structure in the right lobe of the liver (Figure 1B). The fetal MRI was done after 2 days of ultrasound examination on 3T system to further evaluate. Sequences used were ultrafast T1 and T2 (VIBE and HASTE, respectively). MRI dem-onstrated single intrauterine fetus in breech presentation with severe oligohydramnios. Bilateral kidneys were grossly enlarged and showed increased T2 signal intensity with few cysts (Figure 1C). The urinary bladder was not seen. The liver was normal in size and showed tubular and cystic dilatation of intrahepatic biliary channels with most of them showing “ central dot sign ” (Figure 1D). Both fetal lungs showed low signal intensity (Figure 1D). The fetal spleen was normal in size. The fetal MRI findings were suggestive of Caroli's syndrome with ARPKD and bilateral pulmonary hypoplasia. The baby","PeriodicalId":10626,"journal":{"name":"Congenital Anomalies","volume":null,"pages":null},"PeriodicalIF":1.3,"publicationDate":"2022-08-08","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"10476113","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
Antenatal diagnosis of congenital surgical anomalies: A call for wider use in low- and middle-income countries 先天性手术异常的产前诊断:呼吁在低收入和中等收入国家更广泛地使用
IF 1.3 4区 医学
Congenital Anomalies Pub Date : 2022-08-08 DOI: 10.1111/cga.12485
Nilesh Tank, Benjamin Martin, Naomi Wright, Global Initiatives for Children's Surgery: Birth Defect Group, Tahmina Banu, Kokila Lakhoo
{"title":"Antenatal diagnosis of congenital surgical anomalies: A call for wider use in low- and middle-income countries","authors":"Nilesh Tank,&nbsp;Benjamin Martin,&nbsp;Naomi Wright,&nbsp;Global Initiatives for Children's Surgery: Birth Defect Group,&nbsp;Tahmina Banu,&nbsp;Kokila Lakhoo","doi":"10.1111/cga.12485","DOIUrl":"10.1111/cga.12485","url":null,"abstract":"","PeriodicalId":10626,"journal":{"name":"Congenital Anomalies","volume":null,"pages":null},"PeriodicalIF":1.3,"publicationDate":"2022-08-08","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"10481643","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
Two cases of 22q11.2 deletion syndrome with decreased serum calcium during recovery following thyrotoxicosis 22q11.2缺失综合征2例甲状腺毒症术后恢复时血清钙降低
IF 1.3 4区 医学
Congenital Anomalies Pub Date : 2022-08-06 DOI: 10.1111/cga.12486
Shota Hiroshima, Chihiro Taniguchi, Mika Inoue, Hirohito Sone, Keisuke Nagasaki
{"title":"Two cases of 22q11.2 deletion syndrome with decreased serum calcium during recovery following thyrotoxicosis","authors":"Shota Hiroshima,&nbsp;Chihiro Taniguchi,&nbsp;Mika Inoue,&nbsp;Hirohito Sone,&nbsp;Keisuke Nagasaki","doi":"10.1111/cga.12486","DOIUrl":"10.1111/cga.12486","url":null,"abstract":"The most common chromosomal microdeletion syndrome, 22q11.2 deletion syndrome (22qDS), mainly manifests as hypoparathyroidism, which varies from overt to subclinical presentation, and is often asymptomatic. 1 Parathyroid hormone (PTH) reserve, the response of PTH to the sodium bicarbonate infusion test, is reduced in many patients with 22qDS having normocalcemia. 2 22qDS is associated with high-autoimmune thyroid disease inci-dence. 3 Hypercalcemia due to thyrotoxicosis is rarely reported, which means that thyroid hormones affect calcium (Ca) metabolism. 4 22qDS hypocalcemia thyrotoxicosis 5 hypocalcemia and during thyrotoxicosis.","PeriodicalId":10626,"journal":{"name":"Congenital Anomalies","volume":null,"pages":null},"PeriodicalIF":1.3,"publicationDate":"2022-08-06","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"10534162","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
External ear anatomy and variations in neonates 新生儿外耳解剖及变异
IF 1.3 4区 医学
Congenital Anomalies Pub Date : 2022-06-25 DOI: 10.1111/cga.12483
Saadet Erdem, Zeliha Fazliogullari, Ahmet Ural, Ahmet Kagan Karabulut, Nadire Unver Dogan
{"title":"External ear anatomy and variations in neonates","authors":"Saadet Erdem,&nbsp;Zeliha Fazliogullari,&nbsp;Ahmet Ural,&nbsp;Ahmet Kagan Karabulut,&nbsp;Nadire Unver Dogan","doi":"10.1111/cga.12483","DOIUrl":"10.1111/cga.12483","url":null,"abstract":"<p>It is aesthetically important that the auricle has a natural and beautiful shape. The sizes, position and symmetry of normal auricle are used for different purposes in different disciplines. A deformation in the auricle of neonates and its size or location on the face may indicate a possible anomaly. The aim of this study is to investigate the normal sizes, anomaly types, anomaly rates and the relationship between hearing screening test results and auricular anomaly of the neonatal auricle. The length, width, angle, and distance measurements of the auricle were made in neonates (<i>n</i> = 550). Anomaly types of auricle were observed. Goniometer was used to measure angles; digital caliper and ruler were used to measure lengths. Anomalies were detected by the method of observation. In the morphometric data of the neonatal auricle, differences were determined in length and width values in terms of gender. Various types of anomalies were observed in the right ear of 96 participants and in the left ear of 103 participants. Normal auricle size, position and symmetry are important for surgical reconstructions, hearing aid design, producing data banks on gender, age and ethnicity, and providing reference information for multiple diagnostic and forensic procedures. Recognition and early detection of auricular anomalies play an essential role in clinical diagnosis and their correction with special devices.</p>","PeriodicalId":10626,"journal":{"name":"Congenital Anomalies","volume":null,"pages":null},"PeriodicalIF":1.3,"publicationDate":"2022-06-25","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"40396778","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
Intra-abdominal umbilical vein varix in a neonate with polysyndactyly 新生儿腹内脐静脉曲张多指畸形
IF 1.3 4区 医学
Congenital Anomalies Pub Date : 2022-06-24 DOI: 10.1111/cga.12484
Steven Tessier, Jennifer Canning, Santo Longo, Dianne Jacobetz
{"title":"Intra-abdominal umbilical vein varix in a neonate with polysyndactyly","authors":"Steven Tessier,&nbsp;Jennifer Canning,&nbsp;Santo Longo,&nbsp;Dianne Jacobetz","doi":"10.1111/cga.12484","DOIUrl":"10.1111/cga.12484","url":null,"abstract":"An umbilical vein varix (UVV) was first recognized as a malformation by Konstantinova in autopsies of aborted fetuses, stillborn infants, and newborn deaths. This malformation is a focal dilatation most commonly located along the intra-abdominal portion (IUVV) of the umbilical vein. Its etiology is unknown. The incidence is approximately 0.4–1.1 cases/1000 births. The rarity of cases has limited development of a firm consensus on anteand postnatal management. However, accepted diagnostic prenatal ultrasound criteria include venous dilatation of >9 mm, or venous dilatation diameter exceeding 50% of the adjacent non-dilated umbilical vein. While fetal and","PeriodicalId":10626,"journal":{"name":"Congenital Anomalies","volume":null,"pages":null},"PeriodicalIF":1.3,"publicationDate":"2022-06-24","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"40394914","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
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