BACKGROUND & OBJECTIVES Prenatal diagnosis of malformations is an important method of prevention and control of congenital anomalies with poor prognosis. Central nervous system (CNS) malformations amongst these are the most common. The information about the prevalence and spectrum of prenatally detected malformations is crucial for genetic counselling and policymaking for population-based preve...

In the ENT region 50% of the malformations affect the ear. Malformations of the outer and middle ear are predominantly unilateral (ca. 70-90%) and mostly involve the right ear. Inner ear malformations can be unilateral or bilateral. The incidence of ear malformations is approximately 1 in 3800 newborns. Ear malformations may be genetic (associated with syndromes or not, with family history, spo...

pulmonary arteriovenous malformations (avms) are rare vascular malformations of the lung that usually led to a notable risk of serious and life-threatening complications. there is considerable debate about the best management of strategies for the group of patients with diffuse avms. several therapeutic options have been reported for management of this abnormality among which coil embolization ...

background: the goal of the present study was to report the results of two parallel works in which the incidence of fetal deaths and also congenital malformations among the progenies of the iranian chemical victims were studied. methods: the subjects were progenies of a randomly selected population from survivors of chemical attacks during iran-iraq conflict. totally 807 male cases ranged 18-85...

objective: rice bran oil (rbo) is extracted from the outer layer of rice. little information is available regarding its safety. the present study was conducted to assess its safety in chicken embryo model. materials and methods: rbo was injected on day 4 of incubation of chickens. the tissues and serum samples were collected. oxidative stress parameters in the liver, kidney and brain and bioche...

introduction: congenital anomalies of the cochlea and labyrinth can be associated with meningitis and varying degrees of hearing loss or deafness. despite antibiotics, meningitis remains a life threatening complication.   case report: we report a case of recurrent meningitis following episodes of otitis media in a cochlear implantee child with bilateral vestibulocochlear malformation, due to fi...

BACKGROUND In order to investigate whether an earlier reported association between maternal smoking during pregnancy and urinary organ malformations could be confirmed, a study was made using Swedish health registries. METHODS Infants with kidney malformations (n = 483) and infants with other urinary organ malformations with no primary involvement of the kidney(s) (n = 719) were selected amon...

BACKGROUND The relative importance of congenital malformations as a cause of death in the first year of life is increasing along with the control of preventable causes of perinatal mortality. AIM To identify risk factors for congenital malformations. PATIENTS AND METHODS Retrospective case-control study of births registered in the database of The Latin American Collaborative Study of Congen...

Abstract Townes–Brocks syndrome (TBS) is a rare characterized by triad of anal, ear, and thumb anomalies. Further malformations/anomalies include congenital heart diseases, foot malformations, sensorineural and/or conductive hearing impairment, genitourinary anomalies eye nervous system. Definitive diagnosis for TBS confirmed molecular analysis mutations in the SALL1 gene. Only one known case w...

PURPOSE To characterize the MR appearance of the common hemangioma of infancy as well as low- and high-flow vascular malformations of the head and neck. PATIENTS AND METHODS Twenty patients with vascular lesions of the head and neck proved either by pathology, angiography, and/or unequivocal clinical diagnosis were included. Vascular lesions included 15 low-flow lesions (four hemangiomas, 10 ...