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...

Congenital anomalies are already the second cause of infant mortality in Brazil, as in many other middle-income countries in Latin America. Birth defects are a result of both genetic and environmental factors, but a multifactorial etiology has been more frequently observed. Here, we address the environmental causes of birth defects - or teratogens - as a public health issue and present their me...

While several case reports describe partial trisomy 12qter, reports of interstitial 12q duplications are extremely rare. We present here the clinical findings in a female infant with mosaicism for a duplication of chromosome 12q13.3→12q21.2 accompanied by a pericentric inversion (12)(p13.3q21.2). No other cases with an interstitial duplication for this region have been reported. The female infa...

To compare the pattern of cause of death of infant mortality rates by urban/rural areas as well as to generate knowledge for potential strategies to decrease this mortality, we carried out a study by analyzing the infant mortality data from the Shenyang Women and Children Health Care Centre. From 1997 to 2014, 970,583 live births and 6510 infant deaths were registered. Infant mortality rates, p...

Several internal auditory canal (IAC) anomalies have been reported. To our knowledge, only one case with an abnormal direction of the IAC has been reported in an infant with Pierre Robin syndrome. In this paper, we present the first report of two non-syndromic cases with abnormal IAC direction.

A male infant, partially trisomic for a small segment of chromosomes 6 and 22 resulting from a maternal translocation, is described. Comparison of the phenotypic features of the proband with those noted in partial 6p and partial 22 trisomies revealed some common features found in both chromosome anomalies but especially reinforced those features thought to be characteristic of 6p trisomy syndrome.

Ectrodactyly of the feet has been reported only twice in association with trisomy 18 syndrome. A severe form of this anomaly, the first with published illustrative x rays, is described in a male infant with trisomy 18 syndrome. It is suggested that this may represent an extreme expression of the foot anomalies more commonly associated with this syndrome.

Nager syndrome is an extremely rare genetic condition, that this case is the first reported from Egypt. The affected infant manifested a severe phenotype with growth retardation and congenital heart defect. Limb anomalies are a cardinal sign and, in combination with the characteristic craniofacial features, are diagnostic.

Johanson-Blizzard syndrome is rare and involves multiple congenital anomalies, including bilateral absence or deficiency of the nasal alae, giving the affected infant a characteristic appearance. Two cases are described that illustrate the difficulties of nasal reconstruction in young children. Surgical options and the timing of intervention are discussed.