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Sigrid Bairdain, David Zurakowski, Sara O Vargas, Nicole Stenquist, Molly McDonald, Meghan C Towne, David T Miller, Russell W Jennings, David B Kantor, Pankaj B Agrawal
BACKGROUND: Long-gap esophageal atresia (LGEA) may have clinical and syndromic presentations different from those of esophageal atresia (EA) that affects shorter segments of the esophagus (non-LGEA). This may suggest unique underlying developmental mechanisms. OBJECTIVES: We sought to characterize clinical differences between LGEA and non-LGEA by carefully phenotyping a cohort of EA patients, and furthermore to assess molecular genetic findings in a subset of them...
October 19, 2016: Neonatology
Mark Lubinsky
An association between congenital malformations and fetal growth restriction (FGR) can be largely explained by a relationship with early embryonic hypocellularity. The malformations include the VACTERL association, which is exceptional as a Mendelian syndrome, but is commonly associated with monozygotic twinning, maternal diabetes, and some forms of aneuploidy, all characterized by a small embryo early in development. Parsimony suggests that these different links to VACTERL are related to the hypocellularity as a single common factor, rather than as an expression of three independent pathogenetic processes...
September 22, 2016: American Journal of Medical Genetics. Part A
Rahul Gupta, Vinita Chaturvedi
No abstract text is available yet for this article.
August 8, 2016: Indian Pediatrics
Karim Awad, Anupam Lall
Prune belly syndrome is a rare abnormality; its association with VACTERL is even rarer. This association has been reported in literature a few times since first reported in 1993 and so far the majority have either been stillbirths or died shortly after birth. We present a case of Prune belly syndrome associated with VACTERL who is now one year old.
July 2016: Journal of Neonatal Surgery
Giorgia Totonelli, Francesco Morini, Vincenzo Davide Catania, Paolo Maria Schingo, Giovanni Mosiello, Paolo Palma, Barbara Daniela Iacobelli, Pietro Bagolan
PURPOSE: The present study aims to identify clinical and pathological factors that can predict the risk of spinal cord anomalies (SCA) in patients with anorectal malformations (ARM), the need for neurosurgery, and to define the impact of SCA on the outcome of patients with ARM. METHODS: A 16-year retrospective analysis of all patients treated at a single tertiary children's Hospital with diagnosis of ARM. Data were collected to assess the impact of defined clinical characteristics on prevalence of SCA (detected at MRI)...
August 2016: Pediatric Surgery International
Victoria A Lane, Erica Ambeba, Deena J Chisolm, Daniel Lodwick, Marc A Levitt, Richard J Wood, Katherine J Deans, Peter C Minneci
BACKGROUND: The aim of this study was to establish the rate of screening for associated cardiac, vertebral, spinal cord, urologic, and limb anomalies vertebral ano-rectal cardiac tracheo-esophageal renal limb (VACTERL) in children with anorectal malformation (ARM). METHODS: We performed a retrospective cohort study using the Medicaid Analytic eXtract database which contains enrollment and utilization claims and demographic information from all Medicaid enrollees...
June 15, 2016: Journal of Surgical Research
Yixin Chen, Zhenlei Liu, Jia Chen, Yuzhi Zuo, Sen Liu, Weisheng Chen, Gang Liu, Guixing Qiu, Philip F Giampietro, Nan Wu, Zhihong Wu
VACTERL association is a condition comprising multisystem congenital malformations, causing severe physical disability in affected individuals. It is typically defined by the concurrence of at least three of the following component features: vertebral anomalies (V), anal atresia (A), cardiac malformations (C), tracheo-oesophageal fistula (TE), renal dysplasia (R) and limb abnormalities (L). Vertebral anomaly is one of the most important and common defects that has been reported in approximately 60-95% of all VACTERL patients...
July 2016: Journal of Medical Genetics
Tomonobu Kanasugi, Akihiko Kikuchi, Gen Haba, Yuri Sasaki, Chizuko Isurugi, Rie Oyama, Toru Sugiyama
Newborn cases of VACTERL association with lower urinary tract obstruction (LUTO) are rare and there have been no reports on those patients undergoing fetal therapy in English literature. We successfully performed vesico-amniotic shunting in a fetus having LUTO caused by abnormality of the external genitalia at 16 weeks' gestation. Although fetal karyotype was normal 46XY, follow-up fetal ultrasound examinations revealed ventriculomegaly in the brain, a small stomach and a right multicystic dysplastic kidney...
September 2016: Congenital Anomalies
Arimatias Raitio, Rosie Cresner, Richard Smith, Matthew O Jones, Paul D Losty
AIM OF THE STUDY: To assess the safety and effectiveness of fluoroscopic balloon dilatation (FBD) in children with esophageal anastomotic stricture after surgical repair of esophageal atresia. METHODS: All patients undergoing surgery for esophageal atresia and requiring dilatation(s) during a consecutive 15-year period [April 2000-September 2014] were analyzed. Dilatations were performed as day case procedures under general anesthesia using a radial force generating balloon device (Boston Scientific Corporation) by surgeons...
September 2016: Journal of Pediatric Surgery
Blanche P Alter, Neelam Giri
VACTERL-H association includes three of eight features: vertebral anomalies, anal atresia, congenital heart disease, tracheo-esophageal fistula, esophageal atresia, renal, limb anomalies, and hydrocephalus. The VACTERL-H phenotype among cases with FA is considered to be about 5%; the frequency of FA among patients with VACTERL-H is unknown. We examined 54 patients with FA in the National Cancer Institute Inherited Bone Marrow Failure Syndrome Cohort for features of VACTERL-H, including imaging studies (radiology and ultrasound)...
June 2016: American Journal of Medical Genetics. Part A
Anita Gupta, Andrea Bischoff
During the fourth week of human embryo development, a transient common channel known as a cloaca is formed from which three cavities with three external orifices arises. Cloaca anomalies occur when there is failure of separation of the rectum, vagina, and urethra channel resulting in a single drain into the perineum. In our previous institutional studies, Runck et al. compared human and mouse cloaca development and found early mis-patterning of the embryonic cloaca deranged hedgehog and bone morphogenetic proteins (BMP) signaling...
April 2016: Seminars in Pediatric Surgery
Brendan Sorichetti, John P Moxham, Frederick K Kozak
A five day old patient with mild VACTERL syndrome had repair of a type IV congenital laryngeal web with successful decannulation 76 days later. Voice and respiratory outcome is good with follow up 15 years later. This case presents a rare clinical finding of a type IV laryngeal web successfully repaired with a keel and subsequent long term follow up during an era when it was suggested that repair be delayed until 18 months of age at the earliest.
March 2016: American Journal of Otolaryngology
Danitza Velazquez, Elaine Pereira, Thomas Havranek
VACTERL (vertebral anomalies, anal atresia, cardiac defect, tracheoesophageal fistula, renal anomaly, limb anomalies) is an association of anomalies with a wide spectrum of phenotypic expression. While the majority of cases are sporadic, there is evidence of an inherited component in a small number of patients as well as the potential influence of nongenetic risk factors (maternal diabetes mellitus). Presence of hydrocephalus has been reported in VACTERL patients (VACTERL-H) in the past, with some displaying branchial arch anomalies...
March 2016: American Journal of Perinatology Reports
H J J van der Steeg, S M B I Botden, C E J Sloots, A F W van der Steeg, P M A Broens, L W E van Heurn, D V Travassos, I A L M van Rooij, I de Blaauw
PURPOSE: Outcomes of patients with an ARM-type rectovesical fistula are scarcely reported in medical literature. This study evaluates associated congenital anomalies and long-term colorectal and urological outcome in this group of ARM-patients. METHODS: A retrospective Dutch cohort study on patients treated between 1983 and 2014 was performed. Associated congenital anomalies were documented, and colorectal and urological outcome recorded at five and ten years of follow-up...
August 2016: Journal of Pediatric Surgery
Surasak Puvabanditsin, James Van Gurp, Melissa February, Marwa Khalil, Julia Mayne, Jennifer Ai McConnell, Rajeev Mehta
We report a term female neonate with vertebral anomalies, anal and urethral atresia, esophageal atresia with tracheoesophageal fistula (TEF), renal agenesis, pulmonary hypoplasia, genital and sacral appendages, and a single umbilical artery. Genetic studies revealed a 20.91 Mb interstitial deletion of the long arm of X chromosome: Xq25-q27.3. This is a new case of VATER/VACTERL association with Xq25 microdeletion.
2016: Fetal and Pediatric Pathology
Heiko Reutter, Alina C Hilger, Friedhelm Hildebrandt, Michael Ludwig
The acronym VATER/VACTERL association (OMIM #192350) refers to the rare non-random co-occurrence of the following component features (CFs): vertebral defects (V), anorectal malformations (A), cardiac defects (C), tracheoesophageal fistula with or without esophageal atresia (TE), renal malformations (R), and limb defects (L). According to epidemiological studies, the majority of patients with VATER/VACTERL association present with a "Renal" phenotype comprising a large spectrum of congenital renal anomalies...
November 2016: Pediatric Nephrology: Journal of the International Pediatric Nephrology Association
Christopher S Hong, Anthony C Wang, Robert H Bonow, Isaac J Abecassis, Catherine Amlie-Lefond, Richard G Ellenbogen
BACKGROUND: VACTERL association is characterized by a group of congenital malformations that tend to occur together. Rarely, concurrent cerebrovascular abnormalities have been reported. In this article, we present the first reported case of moyamoya disease in a patient with VACTERL association. CASE DESCRIPTION: The patient presented in the neonatal period with esophageal atresia with distal tracheoesophageal fistula as well as an imperforate anus. He also had a ventricular septal defect and persistent foramen ovale...
May 2016: World Neurosurgery
Barbara Mikat, Claudia Roll, Detlev Schindler, Ulrich Gembruch, Iris Klempert, Karin Buiting, Nuria C Bramswig, Dagmar Wieczorek
No abstract text is available yet for this article.
April 2016: Clinical Dysmorphology
Mudassir Hussain, Shah Muhammad, Muhammad Arsalan Khan, Muhammad Manzoor
Imperforate anus is a rare anomaly associated with defects commonly referred to as vertebral defects, anal atresia, cardiac defects, tracheo-oesophageal fistula, renal anomalies and limb abnormalities (VACTERL). With modern surgical procedures the overall outcome is excellent. Permanent colostomy which is required in some cases of this disease can result in some rare complications such as enteroliths formation, as illustrated in the case we are presenting here related to a 28-year-old male who reported at urology emergency with features of urinary and acute large bowel obstruction...
December 2015: JPMA. the Journal of the Pakistan Medical Association
Jamie K Overbey, Alexander A Kon
BACKGROUND: In 2007, an update was released to the pediatric and neonatal septic shock guidelines, which emphasized early use of therapies, specifically, first-hour fluid resuscitation and inotrope therapy. This has led to increased use of intraosseous (IO) access as a source of vascular access. Previously, IO access could be obtained only via a manual IO placement. New semi-automatic devices, such as EZ-IO(®) (Vidacare, Shavano Park, TX), allow for safer and quicker IO access. Data support the use of semi-automatic devices during the acute resuscitation period...
January 2016: Journal of Emergency Medicine
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