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Gabriele Tonni, Gianpaolo Grisolia, Eduardo Félix Santana, Edward Araujo Júnior
AIM: To show imaging results from application of four-dimensional (4D) ultrasound lightening technique (HDlive™) in clinical obstetrics practice. METHODS: Normal and abnormal fetuses at second and third trimester of pregnancy undergoing routine scan with 4D HDlive™ (5DUS) in the rendering mode are described. Realistic features of fetal structures were provided by 5DUS in the rendering mode. Normal anatomy as well as pathology like cleft lip, hypoplastic face, micrognathia, low-set ears, corpus callosum, arthrogryposis, aortic arch, left congenital diaphragmatic hernia are highlighted in this study...
December 28, 2016: World Journal of Radiology
Kotti Ahmed, Ben Dhaou Mahdi, Zitouni Hayet, Louati Hamdi, Jallouli Mohamed, Mhiri Riadh
Heteropagus twins are an extremely rare event with an incidence of 1-2 million live births that represents, sometimes, a real challenge for paediatric surgeons. The majority of cases have complete or partial duplication of the pelvis and/or lower extremities. Thoracic heteropagus conjoined twins is a rare condition in which a grossly defective foetus (the parasite) is attached to the thorax of the main foetus (the autosite). We describe a case of a parasitic heteropagus attached at the chest wall with a rare presentation of giant exomphalos on the autosite...
October 2016: African Journal of Paediatric Surgery: AJPS
Khaled M El-Asmar, Mohammed Abdel-Latif, Abdel-Hamid A El-Kassaby, Mohamed H Soliman, Mosad M El-Behery
BACKGROUND: Colonic atresia (CA) is a rare form of congenital intestinal atresia. Although CA may be isolated, it is more commonly reported in literature in association with other congenital anomalies. MATERIALS AND METHODS: This study is a review of prospectively collected data of all the patients with colonic atresia presented to our center (Ain Shams University) during 2008 to 2016. RESULTS: Twelve patients were enrolled in this study. The atresia was of type I in one case, type II in four cases, type IIIa in six cases, type IV in one case...
October 2016: Journal of Neonatal Surgery
Ting-Ting Gong, Qi-Jun Wu, Yan-Ling Chen, Cheng-Zhi Jiang, Jing Li, Li-Li Li, Cai-Xia Liu, Da Li, Chen Zhou, Yan-Hong Huang
To evaluate time trends of exomphalos prevalence using a large population-based study with cases identified by the Liaoning Birth Defects Registry including 14 cities over the course of a 10-year period. Exomphalos prevalence, percent change, annual percent change (APC), and contribution rates of each city were calculated. Additionally, epidemiological characteristics of this malformation were described. We observed 516 cases of exomphalos among 3,248,954 live births. Birth prevalence of exomphalos was 1.59 per 10,000 live births with non-significant change during the observational period (APC = -1...
September 8, 2016: Scientific Reports
Argyro Syngelaki, Leonardo Guerra, Irene Ceccacci, Tunay Efeturk, Kypros H Nicolaides
OBJECTIVE: To examine the prevalence of alobal holoprosencephaly, exomphalos, megacystis and nuchal translucency thickness (NT) ≥3.5 mm, the incidence and types of associated chromosomal abnormalities and the overall impact on the rate of invasive testing and performance of screening for chromosomal abnormalities of offering invasive testing for these four fetal conditions. METHODS: Prospective screening study for trisomies 21, 18 and 13 by the first-trimester combined test in three maternity units in England...
August 25, 2016: Ultrasound in Obstetrics & Gynecology
Thomas H Reid, Amy Tam, Georgia Antoniou, Juling Ong
Wormian bones are independent ossification centers found within cranial sutures or fontanelles. Though common in adult populations, their presence in children can be associated with several conditions such as osteogenesis imperfecta, hypothyroidism, pyknodysostosis, cleidocranial dysostosis, rickets, and acrocallosal syndrome. These conditions encompass a large range of clinical features but there has only been 1 other reported patient of exomphalos occurring concurrently with these ossicles. The authors present the case of a child with an anterior fontanellar Wormian bone, dysmorphic facial features, and exomphalos major born to unaffected parents...
October 2016: Journal of Craniofacial Surgery
Hee Ju Sohn, Kwi-Won Park, Na Mi Lee, Mi-Kyoung Kim, Seung Eun Lee
A congenital hernia into the base of the umbilical cord is known as an exomphalos and when the size of the defect is 5 cm or less and containing only bowel, it is called as exomphalos minor. We present a case of a newborn with an exomphalos minor within a Meckel diverticulum. He underwent surgical resection of the Meckel diverticulum and repair of the abdominal wall defect. To our knowledge, this is the first reported case of Meckel diverticulum in an exomphalos minor in Korea.
August 2016: Annals of Surgical Treatment and Research
Hassan Raa, Ridzuan As, Guan Tp, Sayed A
Spontaneous gastric perforation is a rare entity in neonates. We report a case of spontaneous gastric perforation in a neonate operated for in-utero rupture of omphalocele.
April 2016: Journal of Neonatal Surgery
S M Channabasapa, S H Pradeep, S Dharmapa, D Sarji
No abstract text is available yet for this article.
April 2016: Saudi Journal of Anaesthesia
David William Fawkner-Corbett, Gregory Shepherd, Kokila Lakhoo
This report presents two cases of neonatal patients with abdominal wall defects requiring emergency intervention, a closing gastroschisis and a pedunculated exomphalos with eviscerated liver. Both presented as pre-partum fetal distress and were delivered in a tertiary centre, where they received antenatal care. Coordination in the multidisciplinary team and prompt surgical intervention prevented loss of the eviscerated abdominal contents and prevented mortality in both cases.
March 30, 2016: BMJ Case Reports
S Shetty, N Kennea, P Desai, S Giuliani, J Richards
Introduction There is a lack of knowledge on the average length of stay (LOS) in neonatal units after surgical repair of common congenital anomalies. There are few if any publications reporting the activity performed by units undertaking neonatal surgery. Such activity is important for contracting arrangements, commissioning specialist services and counselling parents. The aim of this study was to describe postnatal LOS for infants admitted to a single tertiary referral neonatal unit with congenital malformations requiring surgery...
January 2016: Annals of the Royal College of Surgeons of England
Maela Le Lous, Philippe Bouhanna, Claire Colmant, Patrick Rozenberg, Thibaud Quibel
OBJECTIVE: The objective of the study is to assess the utility of an intermediate ultrasound scan at 16(+0) to 18(+6)  weeks of gestation in euploid fetuses with increased nuchal translucency ≥ 3.5 mm. METHODS: Three hundred eighty-nine fetuses with nuchal translucency (NT) ≥ 3.5 mm were identified in two prenatal centers between January 2008 and December 2012. Pregnancy work-up included karyotyping, monthly detailed ultrasound scan starting with a 16th-week scan, a cardioechography, and a genetic counseling...
February 2016: Prenatal Diagnosis
Vijayalakshmi Kandasamy, Manickam Subramanian, Hannahsugirthabai Rajilarajendran, Sailatha Ramanujam, Sathiya Saktivel, Renuka Sivaanandam
INTRODUCTION: Several congenital malformations affect developing fetuses, among which Neural tube defect (NTD) is most common. Folic acid supplementation brought decline in the incidence of NTDs. The present study aims at finding the incidence of NTDs in a tertiary care hospital and compares the results with the similar Indian studies published earlier. MATERIALS AND METHODS: The study was done at Chettinad Hospital & Research Institute (CHRI), Kelambakkam. The total number of deliveries was recorded for a period of five years from 2009 to 2013...
July 2015: Journal of Clinical and Diagnostic Research: JCDR
Frederic Brioude, Irène Netchine, Francoise Praz, Marilyne Le Jule, Claire Calmel, Didier Lacombe, Patrick Edery, Martin Catala, Sylvie Odent, Bertrand Isidor, Stanislas Lyonnet, Sabine Sigaudy, Bruno Leheup, Séverine Audebert-Bellanger, Lydie Burglen, Fabienne Giuliano, Jean-Luc Alessandri, Valérie Cormier-Daire, Fanny Laffargue, Sophie Blesson, Isabelle Coupier, James Lespinasse, Patricia Blanchet, Odile Boute, Clarisse Baumann, Michel Polak, Berenice Doray, Alain Verloes, Géraldine Viot, Yves Le Bouc, Sylvie Rossignol
Beckwith-Wiedemann syndrome (BWS) is an imprinting disorder associating macroglossia, abdominal wall defects, visceromegaly, and a high risk of childhood tumor. Molecular anomalies are mostly epigenetic; however, mutations of CDKN1C are implicated in 8% of cases, including both sporadic and familial forms. We aimed to describe the phenotype of BWS patients with CDKN1C mutations and develop a functional test for CDKN1C mutations. For each propositus, we sequenced the three exons and intron-exon boundaries of CDKN1C in patients presenting a BWS phenotype, including abdominal wall defects, without 11p15 methylation defects...
September 2015: Human Mutation
K N Rattan, Poonam Dalal, Mohit Gupta
No abstract text is available yet for this article.
July 2014: Journal of Neonatal Surgery
Ashrarur Rahman Mitul, Kmn Ferdous
AIM: The purpose of the study was to assess the results of topical use of gentian violet (GV), among the babies with exomphalos major in our institute. METHODS: The study was carried out retrospectively in a tertiary care hospital during the period from 2005 to 2010 inclusive. Exomphalos patients were classified as major if diameter was >5 cm and/or had liver in the sac as content. These patients were initially preferentially treated conservatively with topical 1% GV over the sac resultig a ventral hernia to be repaired later...
October 2012: Journal of Neonatal Surgery
Shalini Sinha, Yogesh Kumar Sarin
AIM: To compare the outcome of patients with jeuno-ileal atresia (JIA) associated with the intraoperative finding of volvulus of small bowel (group A) with that of JIA without volvulus (group B). MATERIALS AND METHODS: It is a retrospective observational study conducted at one of the two units of Pediatric Surgery, in a tertiary care public hospital of India, from January 2001 to December 2010. Hospital records were retrieved and analyzed. During this time period, 65 patients with JIA were operated of which 40 (61...
July 2012: Journal of Neonatal Surgery
Alessandro Mussa, Silvia Russo, Agostina De Crescenzo, Andrea Freschi, Luciano Calzari, Silvia Maitz, Marina Macchiaiolo, Cristina Molinatto, Giuseppina Baldassarre, Milena Mariani, Luigi Tarani, Maria Francesca Bedeschi, Donatella Milani, Daniela Melis, Andrea Bartuli, Maria Vittoria Cubellis, Angelo Selicorni, Margherita Cirillo Silengo, Lidia Larizza, Andrea Riccio, Giovanni Battista Ferrero
Beckwith-Wiedemann syndrome (BWS) is characterized by cancer predisposition, overgrowth and highly variable association of macroglossia, abdominal wall defects, nephrourological anomalies, nevus flammeus, ear malformations, hypoglycemia, hemihyperplasia, and organomegaly. BWS molecular defects, causing alteration of expression or activity of the genes regulated by two imprinting centres (IC) in the 11p15 chromosomal region, are also heterogeneous. In this paper we define (epi)genotype-phenotype correlations in molecularly confirmed BWS patients...
February 2016: European Journal of Human Genetics: EJHG
Karl Oliver Kagan, Christoph Berg, Andreas Dufke, Annegret Geipel, Markus Hoopmann, Harald Abele
OBJECTIVE: The objective of the study was to examine the prenatal anomalies in fetuses with Beckwith-Wiedemann syndrome (BWS). METHODS: The study included a retrospective assessment of 12 pregnancies that were seen at three tertiary referral centres (Universities of Tübingen, Bonn, and Cologne/Germany). The genetic mutation, the results of the second trimester ultrasound examination, and the outcome of the pregnancies are shown. Biometric data were transformed into z-values...
April 2015: Prenatal Diagnosis
Sébastien Mbuyi-Musanzayi, Toni Lubala Kasole, Aimé Lumaka, Tony Kayembe Kitenge, Leon Kabamba Ngombe, Prosper Kalenga Muenze, Prosper Lukusa Tshilobo, François Tshilombo Katombe, Célestin Banza Lubaba Nkulu, Koenraad Devriendt
Beckwith-Wiedemann syndrome (BWS) is a rare congenital syndrome characterized by an overgrowth, macroglossia, exomphalos, and predisposition to embryonal tumors. Central nervous abnormalities associated with BWS are rare. We describe a one-day-old Congolese female who presented meningocele associated with BWS phenotype.
2014: Case Reports in Genetics
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