BACKGROUND Wilms Tumor (WT) can occur in association with tumor predisposition syndromes and/or with clinical malformations. These associations have not been fully characterized at a clinical and molecular genetic level. This study aims to describe clinical malformations, genetic abnormalities, and tumor predisposition syndromes in patients with WT and to propose guidelines regarding indication...

     Urethralduplication is a rare condition occurs as a congenital malformation either independently or in the setting of other congenital malformations such as caudal duplication syndrome. Its prevalence becomes even rarer if it manifests as two side-by-side tracts in coronal plan.Nonetheless, we introduce a unique presentation of complete coronal urethral duplication accompanied by astoundin...

The complacency with which congenital anomalies were once interpreted as expressions of faulty inheritance was rudely shaken in 1940. A convincing demonstration had just occurred in Australia that German measles contracted early in pregnancy by the mother may initiate congenital cataract , deafness, or congenital heart disease in the fetus. A great area for medical exploration had opened. To ap...

In the female, Müllerian ducts will develop to form the uterine tubes, uterus, cervix, and the upper one-third of the vagina; in the male, they are lost. This abnormal development can lead to uterine malformations resulting from aplasia of a part of Müllerian duct. Morphological abnormalities can vary from insufficient fission of tissues causing bicornuate uterus, double uterus or preserved ute...

The association of intracranial hypertension and arteriovenous malformations is described in two patients. Both patients had the typical clinical features of pseudotumour cerebri and were found to have intracranial arteriovenous malformations on arteriography. The mechanism of raised intracranial pressure in patients with arteriovenous malformations is discussed.

We describe three cases of unusual vascular malformations in which the most relevant angiographic findings were the presence of a pathologic arteriovenous shunt through multiple small direct arteriovenous fistulas and the lack of a clearly identifiable nidus. All malformations were symptomatic. Such lesions are relatively rare, but they should be taken into consideration in the differential dia...

Vascular malformations are described in 25 members of one affected family. Most of these lesions were cavernous hemangiomas, but arteriovenous malformations and capillary hemangiomas were also microscopically observed in some specimens. The five generation pedigree suggests the vascular malformations are genetically determined on the basis of a dominant inherited trait.

ABSTRACT Background: Congenital malformations of lung, such as congenital lobar emphysema, cystic adenomatoid malformation, bronchial cyst, pulmonary sequestration are rare occurrence. However, our hospital being in a rural area attracts large number patients with complex malformations. Method: This retrospective analysis is done to evaluate diagnostic accuracy, safety and efficacy outcomes ope...

The diagnosis of cardiovascular malformations (CVM) is based on the echocardiographic evaluation. Multidetector computed tomography (MDCT) and magnetic resonance imaging (MRI) are performant, necessary techniques for the pre- and postoperative assessment of complex malformations, especially of cyanogenic malformations, in which anomalies of the right side of the heart and of the pulmonary circu...

Pulmonary arteriovenous malformations are rare vascular anomalies. We report a 12-year-old girl who presented with exertional dyspnoea, cyanosis and clubbing since the age of five years, and multiple pulmonary arteriovenous malformations. Computed tomography pulmonary angiogram showed a large pulmonary arteriovenous malformation at the lower lobe of the right lung. Pulmonary angiogram showed a ...