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Congenital malformation AND ultrasonography diagnosis

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https://www.readbyqxmd.com/read/27843434/peters-anomaly-in-twins-a-case-report-of-a-rare-incident-with-novel-comorbidities
#1
Hashem S Almarzouki, Alaa A Tayyib, Hassan A Khayat, Raed E Alsulami, Saeed M Alzahrani, Abdulaziz S Alkahtani, Loai S Alghifees
INTRODUCTION: Peters anomaly is a rare developmental malformation involving the anterior segment of the eye, which culminates in amblyopia or congenital blindness. Multiple ocular and/or systemic malformations have been observed with this anomaly, and novel comorbidities continue to be reported. CASE PRESENTATION: The probands were monozygotic twin boys (twin I and twin II) born to consanguineous parents at 36 weeks of gestation. Coarse facial features and deep-seated eyes were noted at birth...
September 2016: Case Reports in Ophthalmology
https://www.readbyqxmd.com/read/27828853/prenatal-sonographic-diagnosis-of-urorectal-septum-malformation-sequence-and-chromosomal-microarray-analysis-a-case-report-and-review-of-the-literature
#2
Yan Pei, Qingqing Wu, Yan Liu, Lijuan Sun, Wenxue Zhi, Puqing Zhang
INTRODUCTION: Urorectal septum malformation sequence (URSMS) is a rare congenital abnormal syndrome that is caused by the incomplete division of the cloaca. Based on whether the cloaca membrane breaks down or not, the URSMS are classified as full and partial forms. The prenatal diagnosis of URSMS remains challenging because of poor recognition to this malformation and the relatively non-specific sonographic features. We report a prenatally sonographic diagnosed case of the partial URSMS, and review the literature to summarize the prenatal features...
November 2016: Medicine (Baltimore)
https://www.readbyqxmd.com/read/27785575/diagnosis-of-joubert-syndrome-via-ultrasonography
#3
Baris Buke, Emre Canverenler, Göksun İpek, Semiha Canverenler, Hatice Akkaya
Joubert syndrome (JS) and related disorders (JSRD) are a group of multiple congenital anomaly syndromes in which the diagnostic hallmark is the molar tooth sign (MTS), a complex midbrain malformation visible on brain imaging. Detection of the MTS should be followed by a diagnostic protocol to assess multi-organ involvement. The incidence of JSRD ranges between 1/80,000 and 1/100,000 live births, although these values may represent an underestimate. The neurological components of JSRD include hypotonia, ataxia, intellectual disability, abnormal eye movements, and neonatal breathing problems...
October 26, 2016: Journal of Medical Ultrasonics
https://www.readbyqxmd.com/read/27785331/congenital-esophageal-duplication-cyst-a-rare-cause-of-dysphagia-in-an-adult
#4
Nikhil Sonthalia, Samit S Jain, Ravindra G Surude, Ashok R Mohite, Pravin M Rathi
Esophageal duplication cyst is a rare congenital embryonal gastrointestinal (GI) malformation which is diagnosed most commonly in childhood. In adults, they can present with a variety of symptoms ranging from dysphagia, chest pain, epigastric discomfort, and vomiting to more serious complications including infections, hemorrhage, and ulcerations. A 30-year-old male presented with gradually progressive dysphagia to solids for 4 months without significant weight loss. Clinical examination and routine laboratory examination were unrevealing...
October 2016: Gastroenterology Research
https://www.readbyqxmd.com/read/27509902/congenital-zika-syndrome-with-arthrogryposis-retrospective-case-series-study
#5
Vanessa van der Linden, Epitacio Leite Rolim Filho, Otavio Gomes Lins, Ana van der Linden, Maria de Fátima Viana Vasco Aragão, Alessandra Mertens Brainer-Lima, Danielle Di Cavalcanti Sousa Cruz, Maria Angela Wanderley Rocha, Paula Fabiana Sobral da Silva, Maria Durce Costa Gomes Carvalho, Fernando José do Amaral, Joelma Arruda Gomes, Igor Colaço Ribeiro de Medeiros, Camila V Ventura, Regina Coeli Ramos
OBJECTIVE: To describe the clinical, radiological, and electromyographic features in a series of children with joint contractures (arthrogryposis) associated with congenital infection presumably caused by Zika virus. DESIGN: Retrospective case series study. SETTING: Association for Assistance of Disabled Children, Pernambuco state, Brazil. PARTICIPANTS: Seven children with arthrogryposis and a diagnosis of congenital infection presumably caused by Zika virus during the Brazilian microcephaly epidemic...
August 9, 2016: BMJ: British Medical Journal
https://www.readbyqxmd.com/read/27489571/hip-dysplasia-screening-epidemiological-data-from-valcea-county
#6
REVIEW
R C Colta, C Stoicanescu, M Nicolae, S Oros, G Burnei
RATIONALE: :In its most severe form, developmental dysplasia of the hip (DDH) is one of the most common congenital malformations. Uncorrected developmental dysplasia of the hip is associated with long-term morbidity such as gait abnormalities, chronic pain, and degenerative arthritis. AIMS: (1) to identify the risks and predisposing factors involved in DDH (2) to define the incidence of the disease locally; (3) to emphasize the importance of ultrasonography in early diagnosis of DDH...
January 2016: Journal of Medicine and Life
https://www.readbyqxmd.com/read/27486275/types-and-outcome-of-fetal-urinary-anomalies-in-low-resource-setting-countries-a-retrospective-study
#7
Hend Shalaby, Reda Hemida, Hanan Nabil, Mohammad Ibrahim
BACKGROUND: Congenital anomalies of the kidney and urinary tract in the developing countries have a poor prognosis due to limited experience in antenatal and postnatal management. PATIENTS AND METHODS: A 3-year retrospective study was carried out from January 2011 to December 2013. The following data were collected and analyzed: maternal age, gravidity, parity, gestational age at diagnosis, and ultrasonography findings. Final diagnosis after birth, the performed surgeries, follow-up data, as well as survival at one year were also analyzed...
October 2016: Journal of Obstetrics and Gynaecology of India
https://www.readbyqxmd.com/read/27168805/gallbladder-agenesis-and-atrial-septal-defect-a-case-report
#8
Yongqiang Liu, N I Ao, Haiping Zhao
Congenital absence of gallbladder and atrial septal defect (ASD) are clinically rare congenital organ malformations, and the simultaneous occurrence of the two is even more rare. The present study reported a case of gallbladder agenesis combined with congenital ASD. A 38-year-old male patient presented with a 3-year history of recurring upper right abdominal pain. The pain had no evident cause and was accompanied by dyspepsia and gasteremphraxis with indigestion. Several color Doppler ultrasonography scans revealed cholecystitis and gallbladder stones...
May 2016: Experimental and Therapeutic Medicine
https://www.readbyqxmd.com/read/26981222/multi-modality-imaging-review-of-congenital-abnormalities-of-kidney-and-upper-urinary-tract
#9
REVIEW
Subramaniyan Ramanathan, Devendra Kumar, Maneesh Khanna, Mahmoud Al Heidous, Adnan Sheikh, Vivek Virmani, Yegu Palaniappan
Congenital abnormalities of the kidney and urinary tract (CAKUT) include a wide range of abnormalities ranging from asymptomatic ectopic kidneys to life threatening renal agenesis (bilateral). Many of them are detected in the antenatal or immediate postnatal with a significant proportion identified in the adult population with varying degree of severity. CAKUT can be classified on embryological basis in to abnormalities in the renal parenchymal development, aberrant embryonic migration and abnormalities of the collecting system...
February 28, 2016: World Journal of Radiology
https://www.readbyqxmd.com/read/26952649/prenatal-diagnosis-of-umbilical-arteriovenous-malformation
#10
Izumi Suzui, Hisashi Masuyama, Yumika Hirano, Takeshi Nishida, Kei Hayata, Yuji Hiramatsu
Umbilical arteriovenous malformation (AVM) is a rare congenital malformation. We report a case of umbilical AVM that was prenatally diagnosed by further color Doppler ultrasonography because of fetal cardiomegaly. At 35 weeks gestation, a male newborn was delivered by emergent cesarean section because of rapid progress of cardiomegaly and breech presentation. Three-dimensional reconstructed computed tomography after birth demonstrated the shunt was spontaneously closed. This is the first case report of umbilical AVM, which was prenatally diagnosed, and the boy was successfully delivered, suggesting that, when fetal cardiomegaly is identified, umbilical AVM must be taken into consideration...
March 29, 2016: Journal of Maternal-fetal & Neonatal Medicine
https://www.readbyqxmd.com/read/26829949/three-dimensional-ultrasound-of-the-fetus-how-does-it-help
#11
REVIEW
Luis F Gonçalves
Three-dimensional ultrasonography (3-D US) was introduced to the field of fetal imaging in the early 1990s. Since then several publications have described potential applications for the diagnosis of congenital malformations as well as organ volumetry. This article reviews basic principles of 3-D US as well as its clinical applicability to prenatal diagnosis of abnormalities involving the face, spine and skeletal system, as well as potential applications of 3-D US for fetal cardiovascular and neuroimaging. Limitations related to motion artifacts, acoustic shadowing and barriers to clinical implementation of 3-D US in clinical practice are addressed...
February 2016: Pediatric Radiology
https://www.readbyqxmd.com/read/26527984/biliary-hamartoma
#12
Oana-Bogdana Barboi, Liliana Gheorghe Moisii, Ahmed Albu-Soda, Irina Ciortescu, Vasile Drug
Biliary hamartoma or von Mayenburg complex (VMCs) is a rare benign congenital malformation of the biliary duct. Patients are usually asymptomatic. Hepatic lesions are incidentally discovered on ultrasonography (US) and subsequent radiological methods are necessary for confirmation. A correct diagnosis is established when typical imaging findings are present, otherwise histological confirmation might be needed.
2013: Clujul Medical (1957)
https://www.readbyqxmd.com/read/26516767/segmentation-of-uterus-using-laparoscopic-ultrasound-by-an-image-based-active-contour-approach-for-guiding-gynecological-diagnosis-and-surgery
#13
Xue-Hao Gong, Jun Lu, Jin Liu, Ying-Yuan Deng, Wei-Zong Liu, Xian Huang, Yong-Heng Yang, Qin Xu, Zhi-Ying Yu
In laparoscopic gynecologic surgery, ultrasound has been typically implemented to diagnose urological and gynecological conditions. We applied laparoscopic ultrasonography (using Esaote 7.5~10MHz laparoscopic transducer) on the retrospective analyses of 42 women subjects during laparoscopic extirpation and excision of gynecological tumors in our hospital from August 2011 to August 2013. The objective of our research is to develop robust segmentation technique for isolation and identification of the uterus from the ultrasound images, so as to assess, locate and guide in removing the lesions during laparoscopic operations...
2015: PloS One
https://www.readbyqxmd.com/read/26489064/persistent-urogenital-sinus-diagnostic-imaging-for-clinical-management-what-does-the-radiologist-need-to-know
#14
Anna Lia Valentini, Michela Giuliani, Benedetta Gui, Mariaelena Laino, Viola Zecchi, Elena Rodolfino, Valeria Ninivaggi, Carlo Manzoni, Lorenzo Bonomo
BACKGROUND: Persistent urogenital sinus (PUGS) is a congenital pathological condition characterized by an abnormal communication between the urethra and vagina. It may be a part of a complex syndrome and can be more often associated with congenital malformations affecting the genitourinary tract system (33%) such as intersex, rectovaginal communication, bladder agenesis, absence of vagina, and hydrocolpos. The correct radiological assessment of PUGS is especially useful for clinicians since the exact anatomical evaluation of this abnormality is a crucial factor for surgical planning...
April 2016: American Journal of Perinatology
https://www.readbyqxmd.com/read/26361024/-frequency-of-holoprosencephaly-in-chile
#15
Julio Nazer Herrera, Lucía Cifuentes Ovalle, Andrea Cortez López
BACKGROUND: Holoprosencephaly is a structural anomaly of the brain that consists in a defect of the prosencephalon development that leads to face and neurological defects of variable intensity. AIM: To estimate holoprosencephaly prevalence at birth. PATIENTS AND METHODS: All cases of holoprosencephaly, born alive or stillbirths, registered in the 15 Chilean Hospitals of the Latin American Collaborative Study of Congenital Malformations (ECLAMC) between 1972 and 2012, were studied...
July 2015: Revista Médica de Chile
https://www.readbyqxmd.com/read/26247254/-prevalence-of-congenital-abnormalities-identified-in-fetuses-with-13-18-and-21-chromosomal-trisomy
#16
Caroline Soares Cristofari Emer, Julio Alejandro Peña Duque, Ana Lúcia Letti Müller, Rejane Gus, Maria Teresa Vieira Sanseverino, André Anjos da Silva, José Antonio de Azevedo Magalhães
PURPOSE: To describe the prevalence of malformations found in fetuses with trisomy of chromosomes 13, 18 and 21 by identifying the most frequent within each condition. METHODS: A retrospective cross-sectional study with the analysis of trisomy cases of chromosomes 13, 18 and 21 diagnosed through fetal karyotype obtained by amniocentesis/cordocentesis, between October 1994 and May 2014, at a Teaching Hospital in Brazil Southern Region. Malformations identified through morphological ultrasonography were described and, subsequently, confirmed in newborn examinations and/or fetal autopsy...
July 2015: Revista Brasileira de Ginecologia e Obstetrícia
https://www.readbyqxmd.com/read/26233979/-congenital-cystic-adenomatoid-malformation-of-the-lung-intrauterine-diagnostic-and-treatment-a-case-report-and-literature-review
#17
REVIEW
Luz Juárez-García, Miguel de Jesús Lopez Rioja, María Teresa Leis-Márquez, Alfredo Machuca-Vaca, Julio Erdmenger-Orellana
The use of prenatal ultrasonography has improve the detection of fetal abnormalities, which affects the perception about the natural history and evolution of them, changing the management of the fetus and neonate. Today, it is possible to perform an early prenatal diagnosis, and be treated even intrauterine with high rates of success. Such is the case of Congenital Cystic Adenomatoid Malformation (CCAM), characterized by abnormal proliferation and dilatation of the terminal structures of the airway, generating multiple cysts of diferent sizes and locations...
May 2015: Ginecología y Obstetricia de México
https://www.readbyqxmd.com/read/26158905/reliability-of-the-european-society-of-human-reproduction-and-embryology-european-society-for-gynaecological-endoscopy-and-american-society-for-reproductive-medicine-classification-systems-for-congenital-uterine-anomalies-detected-using-three-dimensional-ultrasonography
#18
COMPARATIVE STUDY
Artur Ludwin, Inga Ludwin, Marek Kudla, Jan Kottner
OBJECTIVE: To estimate the inter-rater/intrarater reliability of the European Society of Human Reproduction and Embryology/European Society for Gynaecological Endoscopy (ESHRE-ESGE) classification of congenital uterine malformations and to compare the results obtained with the reliability of the American Society for Reproductive Medicine (ASRM) classification supplemented with additional morphometric criteria. DESIGN: Reliability/agreement study. SETTING: Private clinic...
September 2015: Fertility and Sterility
https://www.readbyqxmd.com/read/26131807/phakomatosis-pigmentovascularis-associated-with-sturge-weber-syndrome-ota-nevus-and-congenital-glaucoma
#19
Yangfan Yang, Xiujuan Guo, Jiangang Xu, Yiming Ye, Xiaoan Liu, Minbin Yu
Phakomatosis pigmentovascularis (PPV) is a rare congenital malformation syndrome that is characterized by a combination of capillary abnormalities and dermal melanocytosis.We describe 3 cases of PPV combined with bilateral Sturge-Weber syndrome (SWS), Ota nevus, and congenital glaucoma.Case 1 was a 2-year-old boy. Facial port-wine stains distributed along the 3 branches of his trigeminal nerves, which suggested the existence of SWS. Gray-blue patches were spread over the frontal and temporal areas of bilateral face, waist, buttocks, and thigh...
July 2015: Medicine (Baltimore)
https://www.readbyqxmd.com/read/26087217/-ectopia-cordis-case-report
#20
J Pannová, H Kováčová, D Matura, T Gruszka, J Pavlíček, P Delongová
OBJECT: Case report of ectopia cordis in a fetus at 23 weeks gestation. DESIGN: Case repor. SETTING: Obstetrics and Gynecology Clinic, University of Ostrava and University Hospital in Ostrava. METHODS AND RESULTS: We report a case of pentalogy of Cantrell variant in a 23-week fetus with an ultrasound finding of ectopia cordis, associated intracardial defects and omphalocele containing liver and guts. The patient opted for termination of pregnancy by using prostaglandins...
June 2015: Ceská Gynekologie
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