Congenital diaphragmatic hernia is a common congenital anomaly of uncertain etiology. Its association with multiple congenital anomalies in various organs is well recognized and antenatal radiological evidence of congenital diaphragmatic hernia warrants thorough evaluation to detect other anomalies, some of which can be life threatening. Rarely, heterotopic hepatic tissue is identified in the h...

The association of Down's syndrome with congenital non-chylous pleural effusion is described in a preterm infant.

background: congenital lobar emphysema, also called infantile lobar emphysema, is a respiratory disease that occurs in infants when air enters the lungs and cannot leave easily. it results from cartilage deficiency and bronchomalacia causing distal air trapping and respiratory distress. in this study, we present a case of endobronchial polyp mimicking congenital lobar emphysema. case presentati...

Mortality from congenital malformations by mother's country of birth was examined in England and Wales between the years 1976 and 1980, based on stillbirths and infant deaths. There were 18 870 stillbirths and infant deaths attributed to congenital malformations in this period, of which 2 375 (13%) were to mothers born outside the United Kingdom. There were excess deaths from malformations amon...

Congenital abnormalities (CAs) cause stillbirths, infant deaths and many later life disabilities. Infant mortality rates from different communities reflect levels of such birth defects and are often used to compare populations and determine key risk factors. Understanding causation and the high risk groups is clearly worthwhile, with a view to future prevention. Sheridan and his multidisciplina...

Dandy-Walker malformation is a rare congenital malformation, characterized by agenesis or hypoplasia of the cerebellar vermis, cystic dilatation 4th ventricle and enlargement posterior fossa. Postnatal hydrocephalus develops in approximately 70-90% patients. The relationship with postaxial polydactyl has been defined as possible autosomal recessive syndrome (OMIM 220220). Here, we present an in...

Congenital diaphragmatic hernia (CDH) is a rare condition. The reported incidence of intrathoracic renal ectopia due to CDH is also rare. A right-sided thoracic kidney is much less common due to the location of the liver. Isolated intrathoracic kidney is usually asymptomatic and diagnosed incidentally on chest imaging. The authors report on a 21days old female infant with late-presenting right ...

Background and Objectives: Congenital anomalies are also known as birth defects and congenital disorders. Congenital anomalies occur in about 3-7% of the newborn babies worldwide. The purpose of this study was to determine the incidence of congenital anomalies and their determinants in hospitals affiliated with Isfahan University of Medical Sciences in 1395. Methods: This cross-sectional stu...

Uniparental disomy (UPD) is the inheritance of both copies of a given chromosome from the same parent (Warburton, 1988; Anon., 1991). The exact disease associations of UPD of individual chromosomes have yet to be fully elucidated and the question of whether UPD of some chromosomes may be regarded as a benign finding remains unanswered. We report an infant with uniparental maternal disomy 16, th...