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Susanna Sakonidou, Kamal Ali, Isabel Farmer, Ann Hickey, Anne Greenough
BACKGROUND: Infants with exomphalos major have a high mortality and morbidity. The aims of this study were to identify predictors of survival regardless of the size of the exomphalos, and to analyze morbidity in infants with exomphalos minor. METHODS: Patients were classified as having exomphalos major or minor based on whether the liver was in the exomphalos sac, and the size of the abdominal wall defect. The respiratory, gastrointestinal and surgical outcomes of 50 infants with exomphalos (including 27 with exomphalos major) were assessed...
February 24, 2018: Pediatrics International: Official Journal of the Japan Pediatric Society
Spencer W Beasley
The umbilicus is involved in a wide range of abnormalities in infants and children. The most severe are evident at birth and include exomphalos (omphalocele) and gastroschisis, both of which can be life-threatening but are easy to diagnose. Exomphalos is often associated with other congenital abnormalities, whereas the associated problems in gastroschisis are largely confined to the gut. Infection of the umbilicus in the neonate presents as omphalitis. The causes of a moist umbilicus following separation of the umbilical stump are multiple, from the relatively minor umbilical granuloma or ectopic bowel mucosa to the more significant patent urachus that leaks urine...
November 2017: Journal of Paediatrics and Child Health
Alice C Burnett, Julia K Gunn, Esther A Hutchinson, Margaret M Moran, Lisa M Kelly, Ursula C Sevil, Peter J Anderson, Rod W Hunt
AIM: To characterise neurodevelopment at age two years and cognition and behaviour at age five years in children born with abdominal wall defects (gastroschisis or exomphalos). STUDY DESIGN: Participants were treated as neonates for gastroschisis or exomphalos and invited for routine clinical follow-up at ages two and five years. Thirty-nine two year-olds and 20 five year-olds with gastroschisis and 20 two year-olds and 10 five year-olds with exomphalos returned for age-appropriate assessments of development (two years) and intellectual functioning (IQ), executive function, and behavioural problems...
January 2018: Early Human Development
Chan Tian, Dan Li, Ping Liu, Liping Jiao, Xuefeng Gao, Jie Qiao
BACKGROUND: Complex chromosomal rearrangements (CCRs) are constitutional structural rearrangements that involve three or more chromosomes or that have more than two breakpoints. CASE PRESENTATION: Here, we describe a four-way CCR involving chromosomes 4, 5, 6 and 8. The patient had mild multisystematic abnormalities during his development, including defects in his eyes and teeth, exomphalos and asthenozoospermia. His wife had two spontaneous abortions during the first trimester...
2017: Molecular Cytogenetics
Clare M Rees, Lucinda Tullie, Agostino Pierro, Edward Kiely, Joe I Curry, Kate Cross, Robert Yates, Simon Eaton, Paolo De Coppi
No abstract text is available yet for this article.
August 30, 2017: European Journal of Pediatric Surgery
Clare M Rees, Lucinda Tullie, Agostino Pierro, Edward Kiely, Joe I Curry, Kate Cross, Robert Yates, Simon Eaton, Paolo De Coppi
No abstract text is available yet for this article.
May 23, 2017: European Journal of Pediatric Surgery
Hanneke Fleurke-Rozema, Karline van de Kamp, Marian Bakker, Eva Pajkrt, Caterina Bilardo, Rosalinde Snijders
OBJECTIVE: To examine prevalence, time of diagnosis and outcome of fetuses with an exomphalos or gastroschisis, diagnosed since the introduction of a national prenatal screening program in 2007. METHODS: A prospective cohort study was undertaken in two fetal medicine units in the Netherlands. Cases were included if the estimated due date was between 2009 and 2013. Outcome measures were gestational age at diagnosis, presence of additional anomalies and pregnancy outcome...
April 2017: Prenatal Diagnosis
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
A Syngelaki, L Guerra, I Ceccacci, T Efeturk, K H Nicolaides
OBJECTIVES: To examine the prevalence of alobar holoprosencephaly, exomphalos, megacystis and nuchal translucency thickness (NT) ≥ 3.5 mm, the incidence and types of chromosomal abnormalities associated with these conditions and their overall impact on the rate of invasive testing and performance of screening at 11-14 weeks. METHODS: This was a prospective screening study for trisomies 21, 18 and 13 by the first-trimester combined test at three maternity units in England...
July 2017: 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
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