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Congenital malformation AND ultrasonography diagnosis

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
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...
April 10, 2017: Fetal and Pediatric Pathology
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...
February 22, 2017: Ultrasonography
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
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
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
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
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)
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
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
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
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...
January 2017: 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
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