severe congenital neutropenia (scn) is a rare primary immunodeficiency. different genes are found to be associated with scn, including ela2, hax1, was, gfi1, g-csfr. also, recently g6pc3 as a rare gene in scn has been reported. patients with g6pc3 often have cardiac and/or urogenital malformations. two patients with   persistent   severe   neutropenia,   recurrent   infections   and   maturatio...

The urogenital tract is the most severe and common site of associated defects in anorectal malformations (ARM). Urogenital anomalies and their complications significantly increase the morbidity in these children after the ARM is corrected. The purpose of this study was to estimate the incidence of different types of urogenital anomalies with various types of anorectal malformations and to discu...

BACKGROUND Class 3 urogenital malformations are a rarely encountered in the clinical setting. The association with complex vascular malformations represent a challenge in diagnosis and intraoperative management with an enhanced degree of the complexity. CASE PRESENTATION Young female presented to the emergency department with pain in the left lower quadrant and unspecific abdominal symptoms t...

Malformations of the lower limbs are rare and heterogeneous anomalies. Some congenital anomalies involving face, gastrointestinal system, skeletal system, urogenital system, heart, lung and diaphragma associated with lower limb malformations have been described in the literature. Here, we report a case of left proximal femoral focal deficiency (PFFD) together with fibular aplasia associated wit...

BACKGROUND Showing a prevalence rate of 0.5-0.8%, urogenital malformations discovered in newborns is regarded relatively common. The aim of this study is to examine the efficacy of ultrasound diagnostics in detecting developmental disorders in the urogenital system. METHODS We have processed the prenatal sonographic and postnatal clinical details of 175 urogenital abnormalities in 140 newborn...

Malformations which occur during the development of the avian body organs can lead to structural and functional abnormalities. Most defects are recognized at hatching, but some go undetected until somewhat later. The cause of the majority of animal congenital malformations is unknown. A significant proportion of congenital malformations of unknown cause are likely to have an important genetic c...

We report an unusual case with synchronous occurrence of ganglioneuroma (GN) and multiple urogenital malformations (including ipsilateral renal dysplasia, cryptorchidism and contralateral congenital hydronephrosis). The lesions may be a syndrome associated with embryogenetic disorders. Imaging examinations are helpful for preoperative diagnosis and choose of surgical approach. Staging surgical ...

Penile agenesis or aphallia is a rare congenital anomaly occurring with a frequency of 1:10 -1:30 million newborns. Fewer than 100 cases have been reported worldwide. Associated urogenital malformations and the presence of oligohydramnios with pulmonary hypoplasia determine the infant's viability. Extra-urogenital anomalies have been described in the cardiovascular, gastro-intestinal and muscul...