edward lammer, md
In Memoriam
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Birth Defects Study
Conotruncal Heart Defects
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Orofacial Clefts
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Orofacial clefts

Cleft lip with or without cleft palate (CL+/-P) and cleft palate alone are two different, but common, birth defects that can result from genetic causes and environmental exposures and/or their interactions. Maternal periconceptional smoking is a well-established environmental risk factor, and alcohol use, poor nutrition, and some maternal anticonvulsants have also been suggested as risks factors for oral clefts. In addition, gene-environment studies suggested that risk due to smoking may be influenced by variants in genes involved in the detoxification of tobacco chemicals.

Recent publications:
Genisca AE, Frias JL, Broussard C, Honein MA, Lammer EJ, Moore CA, Shaw GM, Murray JC, Yang W, Cleves M, Rasmussen SA, and the National Birth Defects Prevention Study. Oral clefts in the National Birth Defects Prevention Study, 1997-2004. Am J Med Genet 2009; 149A(6):1149-58.

Honein MA, Rasmussen SA, Reefhuis J, Romitti P, Lammer EJ, Sun L, Correa A, Moore CA, and the National Birth Defects Prevention Study. Effect of maternal smoking and environmental tobacco smoke exposure on the occurrence of orofacial clefts, National Birth Defects Prevention Study, 1997-2001. Epidemiology 2007; 18(2):226-33.

Moreno L, Mansilla MA, Bullard SA, Cooper ME, Busch TD, Valencia-Ramirez C, Rivera D, Hing A, Machida J, Krahn K, Daack-Hirsch S, Chines P, Lammer EJ, Jones M, Christensen K, Lie RT, Johnson MK, Pugh E, Doheny D, Jugessur A, Arcos-Birgos M, Marazita ML, Murray JC, Lidral AC. FOXE1 association with both of isolated cleft lip with or without cleft palate and isolated cleft palate. Hum Mol Genet. 2009; 18(24):4879-96.

Revised: Thursday, September 1, 2016 4:07 PM

 


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