نتایج جستجو برای: high type anorectal malformation

تعداد نتایج: 3188109  

Journal: :Journal of Neonatal Surgery 2012

2016
Claudine le Vaillant Mathilde Vital

Anorectal malformations (ARMs) of all (high and low) forms concern about 1/5000 births. Low form is difficult to diagnose prenatally. Isolated forms are rare; they are often present in the context of multiple malformation syndromes. From a rare case of prenatal diagnosis, ultrasound findings will be discussed as well as the role of three-dimensional ultrasonography (3D) nuclear magnetic resonan...

Journal: :Journal of pediatric surgery 2013
Pauline Clermidi Guillaume Podevin Célia Crétolle Sabine Sarnacki Jean-Benoit Hardouin

PURPOSE The aim of the present study was to assess, after adaptation to French, the only specific quality of life (QoL) instrument for children with Hirschsprung's disease or anorectal malformation, the Hirschsprung's disease/Anorectal Malformation Quality of Life questionnaire (HAQL), in order to get a standardized QoL evaluation instrument that could further be used to help health care improv...

Journal: :iranian journal of child neurology 0
a. mirshemirani md, associate professor of pediatric surgery, shahid beheshti medical university j. ghoroubi md, assistant professor of pediatric surgery, shahid beheshti medical university j. kouranloo md, professor of pediatric surgery,shahid beheshti medical university n. sadeghiyan md, general physician, shahid beheshti medical university

objective the associations between imperforate anus and spinal and vertebral abnormalities and neurologic deficits are well recognized; these neurologic deficits have been considered static rather than progressive. however, recent experience indicates that some patients may develop progressive neurologic problems due to spinal cord lesions that are amenable to neurosurgical correction. material...

Journal: :Journal of Indian Association of Pediatric Surgeons 2017

Journal: :Genes & development 2008
Dorota Szumska Guido Pieles Rachid Essalmani Michal Bilski Daniel Mesnard Kulvinder Kaur Angela Franklyn Kamel El Omari Joanna Jefferis Jamie Bentham Jennifer M Taylor Jurgen E Schneider Sebastian J Arnold Paul Johnson Zuzanna Tymowska-Lalanne Dave Stammers Kieran Clarke Stefan Neubauer Andrew Morris Steve D Brown Charles Shaw-Smith Armando Cama Valeria Capra Jiannis Ragoussis Daniel Constam Nabil G Seidah Annik Prat Shoumo Bhattacharya

We have identified an ethylnitrosourea (ENU)-induced recessive mouse mutation (Vcc) with a pleiotropic phenotype that includes cardiac, tracheoesophageal, anorectal, anteroposterior patterning defects, exomphalos, hindlimb hypoplasia, a presacral mass, renal and palatal agenesis, and pulmonary hypoplasia. It results from a C470R mutation in the proprotein convertase PCSK5 (PC5/6). Compound muta...

Journal: :Archives of disease in childhood 1989
S Chittmittrapap L Spitz E M Kiely R J Brereton

Of 253 infants with oesophageal atresia treated over an eight year period, 122 (48%) had a total of 213 other anomalies. Most commonly affected were the cardiovascular (61 cases, 29%), anorectal (30 cases, 14%), and genitourinary (29 cases, 14%) systems. The VATER (or VACTERL) association was present in 10% of cases, but occurred more often in patients who had oesophageal atresia without an ass...

2018
V Upadhyaya A Gangopadhyay P Srivastava Z Hasan S Sharma

Introduction: Anorectal malformations comprise a wide spectrum of diseases, which can affect boys and girls, and involve the distal anus and rectum as well as the urinary and genital tracts. They occur in approximately 1 in 3500 to 5000 live births. Since the early era of its management, its treatment has gone through an enormous phase of evolution leading from gloomy outcome in the past to nea...

Journal: : 2022

Urethral doubling is a rare congenital anomaly of the urinary system that more common in boys. Less than 500 clinical cases this disease have been described literature, which may signal lack awareness among physicians. Although there are many considerations regarding embryology anomaly, etiopathogenesis its various forms remains unclear. Sometimes urethra combined with other malformations, such...

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