نتایج جستجو برای: vacterl

تعداد نتایج: 265  

2017
Samiul Hasan Ashrarur Rahman Mitul Sabbir Karim

Scrotal ectopia is a rare condition. Associated anomalies are common. We describe a neonate with ectopic scrotum with VACTERL association. This combination of anomalies is very rare.

2014
Pawaree Saisawat Stefan Kohl Alina C. Hilger Daw-Yang Hwang Heon Yung Gee Gabriel C. Dworschak Velibor Tasic Tracie Pennimpede Sivakumar Natarajan Ethan Sperry Danilo S. Matassa Nataša Stajić Radovan Bogdanovic Ivo de Blaauw Carlo L.M. Marcelis Charlotte H.W. Wijers Enrika Bartels Eberhard Schmiedeke Dominik Schmidt Stefanie Mäzheuser Sabine Grasshoff-Derr Stefan Holland-Cunz Michael Ludwig Markus M. Nöhen Markus Draaken Erwin Brosens Hugo Heij Dick Tibboel Bernhard G. Herrmann Benjamin D. Solomon Annelies de Klein Iris A.L.M. van Rooij Franca Esposito Heiko M. Reutter Friedhelm Hildebrandt

Congenital abnormalities of the kidney and urinary tract (CAKUT) account for approximately half of children with chronic kidney disease and they are the most frequent cause of end-stage renal disease in children in the US. However, its genetic etiology remains mostly elusive. VACTERL association is a rare disorder that involves congenital abnormalities in multiple organs including the kidney an...

Journal: :Molecular syndromology 2013
D Mc Laughlin P Hajduk P Murphy P Puri

Animal models are of great importance for medical research. They have enabled analysis of the aetiology and pathogenesis of complex congenital malformations and have also led to major advances in the surgical and therapeutic management of these conditions. Animal models allow us to comprehend the morphological and molecular basis of disease and consequently to discover novel approaches for both...

2017
Takeo Nakaya Taiju Hyuga Yukichi Tanaka Shina Kawai Hideo Nakai Toshiro Niki Akira Tanaka

BACKGROUND Renal dysplasia is the most important cause of end-stage renal disease in children. The histopathological characteristic of dysplasia is primitive tubules with fibromuscular disorganization. Renal dysplasia often includes metaplastic cartilage. Metaplastic cartilage in renal dysplasia has been explained as occurring secondary to vesicoureteral reflux (VUR). Additionally, renal dyspla...

2018
Ettore Piro Ingrid Anne Mandy Schierz Mario Giuffrè Giovanni Cuffaro Simona La Placa Vincenzo Antona Federico Matina Giuseppe Puccio Marcello Cimador Giovanni Corsello

BACKGROUND The aim of this study was to define different characteristics of infants with esophageal atresia and correlations with neonatal level of care, morbidity and mortality occurring during hospital stay. METHODS Charts of all newborns with esophageal atresia (EA) admitted to our University NICU between January 2003 and November 2016 were reviewed and subdivided in four groups related to...

2017
Linda T Nguyen Rachel Fleishman Emilee Flynn Rajeev Prasad Achintya Moulick Cesar Igor Mesia Sue Moyer Reena Jethva

This case report describes a patient with a 22q11.2 duplication. His features, which include VACTERL association with an esophageal atresia/tracheo-esophageal fistula and a vascular ring, expand the previously described phenotype for this duplication.

2010
Sajad Ahmad Salati Sari M Rabah

VACTERL association is a useful acronym for a condition characterised by the sporadic, non-random association of specific birth defects of multiple organ systems.We present one such case which had congenital abnormalities of renal,skeletal and cardiac system.

Leslie Edward Simon Lewis Purkayastha Jayashree Ramesh Bhat. Y, V Soundaram

Background: VACTERL association is usually a sporadic disorder, the possible etiologies of which have been proposed as familial as well as multiple genetic and environmental factors. VACTERL association usually consists of at least three of the core features of vertebral defects, anal atresia, cardiac defects, tracheoesophageal fistula, renal anomalies, and limb abnormalities. Vertebral anomali...

2010
Lorna Jackson Vivek Chandra Colin Michie

Most hemivertebrae eventually lead to congenital scoliosis. We describe an infant with an asymptomatic hemivertebra that occurred as part of a VACTERL syndrome. The effects of hemivertebrae, incidence, detection, risks, treatment and prognosis of congenital scoliosis, are outlined. Competing Interests: None

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