Craniosynostotic variations in syndromic, identical twins
Annals of Plastic Surgery
Sarah SherLarry Hollier
Despite intense research, etiologies underlying syndromic craniosynostosis remain poorly understood. While syndrome-related genetic factors have garnered much attention, external forces likely play a large role as well. In contrast to well-defined genetic abnormalities that may be precisely identified and statistically quantified, characterization of more environmental factors has proven difficult. Much of this challenge stems from difficulty in isolating genetic components. However, in the event that 2 individuals share similar genetics, a clearer picture of external factors impacting phenotypic differences may be drawn. Because monozygotic discordant twins have identical genomes, the differences between affected and unaffected members are the result of the environment. Here, we discuss identical twin females who presented with Crouzon syndrome, as well as variations in craniosynostosis. In addition to highlighting the impact of nongenetic factors on craniosynostosis phenotype, we review several environmental elements that may have played a role in this unusual case.
May 15, 2010·American Journal of Medical Genetics. Part B, Neuropsychiatric Genetics : the Official Publication of the International Society of Psychiatric Genetics·Petra J G ZwijnenburgDorret I Boomsma
Birth defects encompass structural and functional alterations that occur during embryonic or fetal development and are present since birth. The cause may be genetic, environmental or unknown and can result in physical and/or mental impairment. Here is the latest research on birth defects.