familial adenomatous polyposis (fap) is a hereditary autosomal dominant cancer syndrome, results from germ line mutation or deletion of the adenomatous polyposis coli (apc) gene on chromosome 5q21. patients with fap suffer from multiple polyps mainly at the colorectal region as well as other parts of the gastrointestinal tract, which has propensity to transform into carcinoma. fap has also been...

ICAT (Inhibitor of β-catenin and T cell factor) inhibits the interaction between β-catenin and TCF/LEF transcription factor and serves as a negative regulator of Wnt signaling. In a subset of ICAT knockout mice, significant delay in the ureteric bud branching and renal agenesis are observed. In order to examine the process of this developmental defect, molecular changes were analyzed in fetal I...

The intrathoracic kidney is one of the rare causes congenital ectopic kidney. present study discusses a case referred to our clinic with pre-diagnosis renal agenesis and diagnosis 9-year-old patient who applied complaining abdominal pain. left could not be shown in ultrasonography for patient's In Tc-99m dimercaptosuccinic acid (DMSA) scintigraphy performed on this, was detected far above its n...

Abstract Background Zinner's syndrome is a mesonephric duct anomaly characterized by unilateral renal agenesis, ipsilateral seminal vesicle cyst, and ejaculatory obstruction due to insult occurred at urogenital tract embryogenesis during the first trimester. In third fourth decades of life, it frequently diagnosed when patients begin be symptomatic, such as lower urinary symptoms, infertility p...

Objective Müllerian duct anomalies are congenital anomalies of the female genital tract resulting from non-development or non-fusion of the Müllerian ducts, or failed resorption of the uterine septum. The acronym for obstructed hemivagina and ipsilateral renal anomaly (OHVIRA) was created to describe patients with an obstructed hemivagina and ipsilateral renal anomaly and enables inclusion of o...

  Pulmonary agenesis is a rare congenital anomaly in which there is absence of pulmonary parenchyma as well as its bold vessels. It is an unusual cause of respiratory distress in newborn. Unilateral agenesis of lung is often associated with other congenital anomalies. The condition may lead to diagnostic difficulties.   Right pulmonary agenesis has poor prognosis. Here we present a case of fem...

Sir, T triad of short neck, low posterior hairline and severe restriction of cervical motion is a classic definition of KlippelFeil syndrome. Klippel-Feil syndrome (KFS) is characterized by congenital fusion of two or more cervical vertebrae and is believed to result from faulty segmentation along the embryo’s developing axis during the second to eighth week of gestation. This is commonly assoc...

Objectives:The aim of this study is to find some genetic aspects of dental agenesis and, in particular, to analyze mutations in the MSX1 and PAX9 genes in individuals with non-syndromic dental agenesis. The aim is to enhance our understanding of the genetic basis of these anomalies and to provide an epidemiological overview regarding the incidence of agenesis in the population, by innovative, m...

Congenital agenesis of lumbar vertebrae was diagnosed in a day-old female lamb based on radiology and clinical examinations. There was no neurological deficit in hindlimb and forelimb associated with standing disability. Radiography of the abdominal region revealed absence of lumbar vertebrae. Necropsy confirmed clinical and radiographic results. No other anomaly or agenesis was seen macroscopi...