BDRC December Issue TOC Online


The December 2014 issue of Birth Defects Research Part C: Embryo Today: Reviews is available and you may access the table of contents online. Members who subscribe to BDR may access the full articles via the Teratology website using your member login information. 

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Congenital organ and tissue defects represent primary events in the majority of teratological birth outcomes. This issue of BDRC: Embryo Today features five critical reviews covering multiple organ and tissue systems of direct relevance to teratological outcomes. Shkoukani and colleagues provide an overview on orofacial clefts, one of the most common birth defects, including embryonic development, genetic and environmental contributing factors, and the successes and challenges of surgical approaches to correct primary and secondary cleft palates, in particular the need for multi-disciplinary pre- and postoperative care and optimization of function and quality of life of the patients. Kool et al. address pulmonary vascular diseases from a development angle, covering embryonic morphogenesis and the role of pivotal genes. Focus is paid on four diseases of the newborn in which pulmonary vascular development play a critical role in morbidity and mortality and discussion of promising research to elucidate the molecular pathways involved.

Grinspon and Rey cover congenital malformations of the genitalia, one of the most stressful situations surrounding a newborn. Specifically, the authors focus on those congenital conditions in which gonadal function and sex hormone organ sensitivity are normal, where other factors are involved, affecting both the reproductive and urinary systems. A related review on congenital anomalies of the kidney and urinary tract (CAKUT) is presented by Soares dos Santos Junior and colleagues. CAKUT account for 20-30% of all genetic malformations diagnosed during the prenatal period and are estimated to be responsible for 30-50% of all children with chronic renal disease worldwide. Their review addresses the common genetic background with variable penetrance and the possible underlying molecular mechanisms associated with the development of the wide spectrum of CAKUT phenotypes.

Finally, Wijers and colleagues review the existing knowledge on the etiology of nonsyndromic congenital anorectal malformations, pointing to the involvement of both genes and nongenetic risk factors and the need for future studies focusing on gene-gene and gene-environment interactions. Together, these critical reviews underscore contemporary advances that have been made on our understanding of congenital organ and tissue birth defects, and emphasize the importance of genetic, nongenetic, and environmental factors in their etiology and the need for multidisciplinary treatment approaches to restore function and improve quality of life in affected individuals.



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