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Congenital malformation AND ultrasonography diagnosis

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...
2016: BMJ: British Medical Journal
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
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
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
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
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 7, 2016: Journal of Maternal-fetal & Neonatal Medicine
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
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)
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
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
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
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
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
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
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)
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
Lindsay R Freud, Maria C Escobar-Diaz, Brian T Kalish, Rukmini Komarlu, Michael D Puchalski, Edgar T Jaeggi, Anita L Szwast, Grace Freire, Stéphanie M Levasseur, Ann Kavanaugh-McHugh, Erik C Michelfelder, Anita J Moon-Grady, Mary T Donofrio, Lisa W Howley, Elif Seda Selamet Tierney, Bettina F Cuneo, Shaine A Morris, Jay D Pruetz, Mary E van der Velde, John P Kovalchin, Catherine M Ikemba, Margaret M Vernon, Cyrus Samai, Gary M Satou, Nina L Gotteiner, Colin K Phoon, Norman H Silverman, Doff B McElhinney, Wayne Tworetzky
BACKGROUND: Ebstein anomaly and tricuspid valve dysplasia are rare congenital tricuspid valve malformations associated with high perinatal mortality. The literature consists of small, single-center case series spanning several decades. We performed a multicenter study to assess the outcomes and factors associated with mortality after fetal diagnosis in the current era. METHODS AND RESULTS: Fetuses diagnosed with Ebstein anomaly and tricuspid valve dysplasia from 2005 to 2011 were included from 23 centers...
August 11, 2015: Circulation
Andrea Mancini, Dario Deceglia, Cristian Dell'Atti, Pernina Angelini, Michele Bozzi, Cristoforo Cuzzola, Vincenzo Giancaspro, Elvira Laraia, Maria Teresa Nisi, Anna Rita Proscia, Giuseppe Tarantino, Ottavia Vitale, Francesco Petrarulo
Congenital arteriovenous renal fistulas are rare malformations due to abnormal communications between arterial and the venous systems. There are two types of congenital arteriovenous malformations: crisoid or, as in the present study, aneurysmal. Hematuria is the major and most common symptom, along with other clinical manifestations, such as hypertension, left ventricular hypertrophy, cardiac failure, and abdominal pain, but the congenital aneurysmatic arteriovenous renal fistulas can be also asymptomatic...
March 2015: Giornale Italiano di Nefrologia: Organo Ufficiale Della Società Italiana di Nefrologia
Lidong Huang, Shengqiang Gao, Ruijie Dai, Dongdong Chen, Hongqi Shi, Qitong Song, Bin He, Yunfeng Shan
Esophageal duplication cysts (EDCs) are congenital malformations of the posterior primitive foregut and often within the thoracic esophagus. Here we describe a rare case of intra-abdominal EDC near spleen in a 20-year-old female patient with a complaint of an asymptomatic abdominal mass for 5 years. The diagnosis of intra-abdominal EDC was confirmed by the Ultrasonography (US) and Magnetic resonance imaging (MRI) as well as Histological examination. Then the patient was received the laparoscopic resection and recovered well after the operation...
2015: International Journal of Clinical and Experimental Pathology
Raashid Hamid, Nisar A Bhat, Kumar Abdul Rashid
Background. Congenital midureteric stricture (MUS) is a rare malformation. We report our experience with five cases seen over a period of 4 years from 2010 to 2014. Materials and Methods. The study was based on the retrospective analysis of five patients diagnosed as having MUS. Diagnosis was suspected after fetal ultrasonography (USG) in one patient and magnetic resonance urography (MRU) in four patients. Retrograde pyelography (RGP) was performed on three patients. The final diagnosis was confirmed during surgical exploration in all the patients...
2015: Case Reports in Urology
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