Sacrococcygeal teratoma (SCT) is being more often detected due to availability of prenatal ultrasonography. Type IV SCT could be misdiagnosed as cloacal abnormalities due to the pelvic midline cystic mass associated with renal malformations and obstructive uropathy during the pregnancy. We discuss difficulties in the prenatal differential diagnosis of SCT and urogenital sinus in a 26-year-old p...

We are reporting here, a case of the Lenz syndrome in a neonate who was brought to the Paediatric OPD, Kasturba Medical College Hospital, Attavar, Mangalore India, with the complaints of poor suckling since birth and abnormal facial features. Altogether, the characteristic congenital abnormal findings in Lenz syndrome, which comprise of microophthalmia, ear anomalies, microcephaly, skeletal and...

Prune-Belly syndrome is a disorder characterized by the following triad of symptoms: deficiency of the abdominal muscles, malformations of the urinary tract and bilateral cryptorchidism. This study included a total of 16 patients. The findings included clinical characteristics, diagnostics, therapy and long-term clinical outcomes. All patients were asked to complete a questionnaire and, in some...

BACKGROUND There are few studies in the literature performed in human fetuses evaluating the incidence of genitourinary anomalies. AIMS Analyze the incidence of congenital urogenital malformations in human male fetuses. STUDY DESIGNS AND SUBJECTS: We analyzed 166 human male fetuses well preserved. The gestational age was determined in weeks post conception (WPC) according to the foot length c...

UNLABELLED To help physicians and radiologists in the diagnosis of female genito-urinary malformations, especially of complex cases, the embryology of the female genital tract, the basis for Müllerian development anomalies, the current classifications for such anomalies and the comparison for inclusion and cataloguing of female genital malformations are briefly reviewed. The use of the embryolo...

BACKGROUND Mayer-Rokitansky-Küster-Hauser (MRKH) syndrome is a malformation of the female genital tract (vaginal aplasia, rudimentary uterus, normal fallopian tubes and high ovaries). The incidence is one in 4000 female newborns. The aim of the present study was to record genital and associated malformations among siblings and relatives of MRKH patients in order to draw possible conclusions reg...

Background: The objective of the paper is to review the incidence and types of associated urogenital anomalies (U.G.A.) we encountered in patients with anorectal malformations (A.R.M.) and compare the results with previously published world literature. Materials and Methods: Retrospective review was done of 220 cases of A.R.M., treated from May 2002 to April 2003. All patients routinely underwe...

Schistosomus reflexus (SR) is a rare and fatal congenital disorder. Primarily observed in ruminants, its defining features include spinal inversion, exposure of the abdominal viscera because of a fissure of the ventral abdominal wall, limb ankylosis, positioning of the limbs adjacent to the skull and, lung and diaphragm hypoplasia. Variable components of SR include scoliosis, cleft sternum, exp...

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 maturation arrest at pr...