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Congenital malformation AND ultrasonography diagnosis

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https://www.readbyqxmd.com/read/29346049/microphthalmia-corneal-dermoids-and-congenital-anomalies-resembling-goldenhar-syndrome-in-a-cat
#1
William Berkowski, Ingeborg Langohr, Anthony Pease, Joshua Bartoe
CASE DESCRIPTION An 18-month-old spayed female domestic shorthair cat was evaluated because of conjunctivitis and skin-fold dermatitis secondary to bilateral microphthalmia, corneal dermoids, and ankyloblepharon. CLINICAL FINDINGS Physical examination revealed bilateral microphthalmia, bilaterally symmetrical corneal dermoids, ankyloblepharon, superior and inferior entropion, prognathism, and facial asymmetry with deviation of the nasal septum. Computed tomography revealed malformed, thickened bony orbits with mineralization of the orbital ligament bilaterally...
February 1, 2018: Journal of the American Veterinary Medical Association
https://www.readbyqxmd.com/read/29204238/crossed-fused-renal-ectopia-case-report-and-review-of-the-literature
#2
Anna Mudoni, Francesco Caccetta, Maurizio Caroppo, Fernando Musio, Antonella Accogli, Maria Dolores Zacheo, Maria Domenica Burzo, Vitale Nuzzo
Crossed fused renal ectopia is a rare congenital anomaly, and is mostly detected incidentally. A 45-year-old man, during investigation for recurrent abdominal pain, was found to have an empty left renal fossa and right crossed renal ectopia with fusion on ultrasonography. In the present case, there were no abnormalities and/or alteration of the renal function. Abdominal tomography scan with contrast medium confirmed the diagnosis. Ectopic kidney is often associated with other abnormal situations such as agenesis, vascular malformation, incontinence, a palpable abdominal mass, urinary tract infection, high incidence of stone formation, and genital anomalies...
December 2017: Journal of Ultrasound
https://www.readbyqxmd.com/read/29201481/cystic-lymphangioma-of-the-chest-wall-in-a-5-year-old-male-patient-a-rare-and-atypical-localization-a-case-report-and-comprehensive-review-of-the-literature
#3
Dimitrios Patoulias, Ioannis Patoulias, Christos Kaselas, Maria Kalogirou, Chatzopoulos Kyriakos, Farmakis Konstantinos, Thomas Feidantsis, Papacrivou Eleni
Lymphangioma is a benign congenital malformation. The extremely rare and atypical localization of a lymphangioma in the chest wall was the real motive for the present case study. A 5-year-old boy was admitted to the Emergency Department of the 1st Department of Pediatric Surgery, Aristotle University of Thessaloniki, due to the presence of a mildly painful swelling in the left lateral chest wall, which was first noticed three months ago, after a blunt injury during sport. Physical examination revealed the presence of a palpable, spherical, painful, nut-sized subcutaneous lesion in the left lateral chest wall, respectively, with the anterior axillary line, at the height of the 6th to 7th intercostal space...
2017: Case Reports in Pediatrics
https://www.readbyqxmd.com/read/29135270/-effectiveness-of-prenatal-ultrasound-in-fetal-and-neonatal-malformations-and-examination-of-difficulty-and-uncertainty-factors
#4
Fanni Rebeka Erős, Artúr Beke
INTRODUCTION AND AIM: The birth prevalence of congenital malformations is around 2-3%. The aim of this study was to examine the efficacy of ultrasound diagnostics in detecting congenital malformations. METHOD: We have processed the prenatal sonographic and postnatal clinical details of 1867 inborn abnormalities in 1200 fetuses over a 7-year period. RESULTS: The mean maternal age upon delivery/abortion was 29.96 ± 5.88 years. In 671 cases, the pregnancy concluded in delivery with a mean gestational age of 35...
November 2017: Orvosi Hetilap
https://www.readbyqxmd.com/read/29019762/central-nervous-system-effects-of-intrauterine-zika-virus-infection-a-pictorial-review
#5
Bianca Guedes Ribeiro, Heron Werner, Flávia P P L Lopes, L Celso Hygino da Cruz, Tatiana M Fazecas, Pedro A N Daltro, Renata A Nogueira
Relatively few agents have been associated with congenital infections involving the brain. One such agent is the Zika virus, which has caused several outbreaks worldwide and has spread in the Americas since 2015. The Zika virus is an arbovirus transmitted by infected female mosquito vectors, such as the Aedes aegypti mosquito. This virus has been commonly associated with congenital infections of the central nervous system and has greatly increased the rates of microcephaly. Ultrasonography (US) remains the method of choice for fetal evaluation of congenital Zika virus infection...
October 2017: Radiographics: a Review Publication of the Radiological Society of North America, Inc
https://www.readbyqxmd.com/read/28976907/prenatal-diagnosis-of-clubfoot-a-review-of-current-available-methodology
#6
REVIEW
Cesare Faldini, Domenico Fenga, Ilaria Sanzarello, Matteo Nanni, Francesco Traina, Michele Attilio A Rosa
BACKGROUND: Clubfoot is one of the most common congenital limb deformities. Prenatal diagnosis of the condition is essential as it can help treat the malformation as early as possible. We reviewed the recent available literature concerning the current methods for prenatal diagnosis of clubfoot. METHODS: The following databases were searched from 1966 to 2015: PubMed, OVID, Cochrane, CINAHL, Google scholar and Embase. RESULTS: Out of a total number of 197 retrieved articles, after abstract or title page evaluation, 158 articles not matching the inclusion criteria were excluded...
September 1, 2017: Folia Medica
https://www.readbyqxmd.com/read/28890277/-prenatal-diagnosis-of-abdominal-wall-defects
#7
H El Mhabrech, H Ben Hmida, H Charfi, A Zrig, C Hafsa
Anterior abdominal wall defects (AAWD) correspond to a wide spectrum of congenital defects affecting 6.3/10,000 pregnancies. They have in common a closure defect of the anterior abdominal wall and can be fatal or expose the fetus and the neonate (NN) to many complications. This study was based on a retrospective study of 22 cases of AAWD collected between May 2009 and December 2014. Its purpose was to specify the importance of prenatal ultrasonography in the diagnosis and prognosis assessment of these defects...
October 2017: Archives de Pédiatrie: Organe Officiel de la Sociéte Française de Pédiatrie
https://www.readbyqxmd.com/read/28858090/prenatal-ultrasonic-diagnosis-of-absent-pulmonary-valve-syndrome-a-case-report
#8
Wen-Jun Zhang, Zhong-Lei Zhang, Jun-Jie Chang, Xiao-Yu Song
RATIONALE: Absent pulmonary valve syndrome (APVS) is a rare congenital heart disease that is often associated with tetralogy of Fallot (TOF). Here, we report 2 cases of APVS associated with TOF diagnosed via fetal echocardiography and discuss their specific ultrasonographic characteristics. PATIENT CONCERNS: Two pregnant women with suspicion of fetal heart anomaly were referred from their local hospitals to our hospital for fetal malformation screening and detailed fetal echocardiography...
September 2017: Medicine (Baltimore)
https://www.readbyqxmd.com/read/28799037/three-dimensional-hdlive-imaging-of-an-umbilical-cord-cyst
#9
Eisuke Inubashiri, Naomi Nishiyama, Sayuri Tatedo, Hiina Minami, Atushi Saitou, Yukio Watanabe, Masaki Sugawara
Umbilical cord cysts (UCC) are a rare congenital malformation. Previous reports have suggested that the second- and third-trimester UCC may be associated with other structural anomalies or chromosomal abnormalities. Therefore, high-quality imaging is clinically important for the antenatal diagnosis of UCC and to conduct a precise anatomical survey of intrauterine abnormalities. There have been few reports of antenatal diagnosis of UCC with the conventional two- and three-dimensional ultrasonography. In this report, we demonstrate the novel visual depiction of UCC in utero with three-dimensional HDlive imaging, which helps substantially with prenatal diagnosis...
August 10, 2017: Journal of Medical Ultrasonics
https://www.readbyqxmd.com/read/28701601/an-antenatal-diagnosis-congenital-high-airway-obstruction
#10
S Miital, A Mittal, R Singal, S Singal, G Sekhon
Congenital high airway obstruction (CHAOS) is a rare lethal fetal malformation characterised by obstruction to the fetal upper airway, which can be partial or complete. Antenatal diagnosis of CHAOS is important due to recent management options. Diagnosis is made with secondary changes such as hyperechoic enlarged lungs resulting in mediastinal compression, ascites, hydrops, flattened or everted diaphragms and dilated distal airways. We reported a case of CHAOS, antenatally on ultrasonography (USG) at 20 weeks of gestation...
July 2017: Annals of Cardiac Anaesthesia
https://www.readbyqxmd.com/read/28675887/prenatal-imaging-findings-of-pontine-tegmental-cap-dysplasia-report-of-four-cases
#11
Eléonore Blondiaux, Stéphanie Valence, Stéphanie Friszer, Diana Rodriguez, Lydie Burglen, Hubert Ducou le Pointe, Marie Blouet, Catherine Garel
OBJECTIVES: To describe the prenatal imaging findings in pontine tegmental cap dysplasia (PTCD), a rare congenital malformation of the hindbrain so far reported postnatally only and characterized by a typical appearance of the pons with malformations of the vermis and the cerebellar peduncles. METHODS: This retrospective multicenter study retrieved 4 cases of PTCD over a 10-year period. Prenatal ultrasonography and fetal magnetic resonance imaging (MRI) findings were reviewed and compared to postnatal or postmortem data...
July 5, 2017: Fetal Diagnosis and Therapy
https://www.readbyqxmd.com/read/28642639/foregut-duplication-cysts-in-children
#12
Keshawadhana Balakrishnan, Frances Fonacier, Shilpa Sood, Natasha Bamji, Howard Bostwick, Gustavo Stringel
BACKGROUND AND OBJECTIVES: Duplications of the alimentary tract are rare anomalies. We report our experience with foregut duplication cysts including their clinical presentation, diagnostic modalities, and surgical management. METHODS: We report a 20-year retrospective review of all foregut duplication cysts managed at our institution. RESULTS: Twelve patients with 13 foregut duplication cysts were identified. The ages of the children at the time of surgery ranged from infancy to adolescence, with a mean age of 7...
April 2017: JSLS: Journal of the Society of Laparoendoscopic Surgeons
https://www.readbyqxmd.com/read/28400997/congenital-uterine-arteriovenous-malformation-presenting-as-postcoital-bleeding-a-rare-presentation-of-a-rare-clinical-condition
#13
Neha Agarwal, Seema Chopra, Neelam Aggarwal, Ujjwal Gorsi
Congenital uterine arteriovenous malformation (AVM) is an extremely rare condition with <100 cases documented in literature. We report multiparous women presenting to us with a history of postcoital bleed. Initial Doppler ultrasonography was consistent with features suggestive of AVM. Subsequently, computed tomography (CT) angiography confirmed the diagnosis. Embolization was chosen as the treatment because of the large extension of AVM and the risk of hemorrhage during hysterectomy. The patient was discharged in a stable condition with a plan of repeat embolization in the next setting...
2017: Journal of Clinical Imaging Science
https://www.readbyqxmd.com/read/28394716/lethal-congenital-malformations-in-fetuses-antenatal-ultrasound-or-perinatal-autopsy
#14
Sumit Grover, Bhavna Garg, Neena Sood, Kamaldeep Arora
BACKGROUND: Congenital malformations (CMF) are major causes of fetal demise which can be detected antenatally by Ultrasonography (USG). METHODS: We studied 100 perinatal autopsies for CMF. Sensitivity of USG was determined and accuracy of USG with that of autopsy was compared. RESULTS: At Autopsy 134 individual CMF were seen in 40 cases. The sensitivity of USG in detecting major CMF was 54.47%. A complete agreement between autopsy and USG findings was seen in 13/40 (32...
June 2017: Fetal and Pediatric Pathology
https://www.readbyqxmd.com/read/28372341/ultrasonography-of-the-pediatric-hip-and-spine
#15
REVIEW
Yeo Ryang Kang, Joonbum Koo
Ultrasonography (US) is a useful screening method for the diagnosis of developmental dysplasia of the hip (DDH) and congenital spinal anomalies in infants. In addition, US is a useful, noninvasive imaging modality for the diagnosis of transient synovitis in children. The early detection of DDH leads to a better prognosis without surgical intervention. Moreover, spinal US allows the detection of congenital malformations and can also demonstrate normal anatomy and normal variants that may resemble disorders. Therefore, radiologists should be familiar with the sonographic anatomy of the normal infant hip, scanning and measurement techniques for DDH, the US features of transient synovitis in children, spinal US techniques, and the US features of normal anatomical structures, normal variants, and congenital spinal anomalies...
July 2017: Ultrasonography
https://www.readbyqxmd.com/read/28338118/unusual-discovery-after-an-examination-for-abdominal-pain-abernethy-1b-malformation-and-liver-adenomatosis-a-case-report
#16
Romeo Ioan Chira, Adriana Calauz, Simona Manole, Simona Valean, Petru Adrian Mircea
Congenital extrahepatic portosystemic shunt (Abernethy malformation) is a rare condition characterized by developmental abnormalities of the portal venous system resulting in the diversion of the portal blood from the liver to the systemic venous system through a complete or partial shunt of the portomesenteric blood. We report the case of an 18 year-old female examined for abdominal pain, presenting cholestasis syndrome and an elevated serum aspartate aminotransferase level. Liver ultrasound examination revealed the absence of the portal vein with a complete extrahepatic shunt of the portal blood, multiple focal liver lesions, and multiple associated vascular anomalies...
March 2017: Journal of Gastrointestinal and Liver Diseases: JGLD
https://www.readbyqxmd.com/read/28320222/demographic-and-perinatal-outcome-data-of-fetuses-with-sua-pruv
#17
Lulu Sun, Yanlin Wang
AIM: Identify structural anomalies and adverse pregnancy outcomes accompanying single umbilical artery (SUA) and persistent right umbilical vein (PRUV) and to investigate whether SUA and PRUV are associated with chromosomal abnormalities and if these defects warrant invasive antenatal diagnosis. METHODS: We retrospectively analyzed pregnancies with an antenatal diagnosis of SUA/PRUV from the International Peace Maternity and Child Health Hospital (IPMCHH) database...
April 3, 2017: Journal of Maternal-fetal & Neonatal Medicine
https://www.readbyqxmd.com/read/28180202/applicability-and-technical-aspects-of-two-dimensional-ultrasonography-for-assessment-of-fetal-heart-function
#18
REVIEW
Nathalie Jeanne Bravo-Valenzuela, Alberto Borges Peixoto, Luciano Marcondes Nardozza, Alex Sandro Souza, Edward Araujo Júnior
In recent years, fetal echocardiography has been used for the screening and diagnosis of anatomical heart defects and for the detailed study of fetal cardiac function. This method is characterized by its easy implementation and good reproducibility, allowing the diagnosis of myocardial dysfunction even in its subclinical phase. The functional assessment of the fetal heart should be routinely performed in fetuses with congenital heart disease and those without anatomical malformation. Several extra-cardiac conditions may alter fetal cardiac function, by increased placental resistance, volume overload or hyperdynamic circulation, compression, or maternal systemic disease with involvement of the fetal myocardium...
January 31, 2017: Medical Ultrasonography
https://www.readbyqxmd.com/read/27843434/peters-anomaly-in-twins-a-case-report-of-a-rare-incident-with-novel-comorbidities
#19
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
#20
REVIEW
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)
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