Snapshot A young, immigrant mother brings her 6-month-old child to the pediatrician for the first time. He is noted to have low-set ears, clenched fists, and a small, retracted lower jaw, as well as a cardiac murmur on auscultation. Introduction Relatively common genetic abnormality, though less so than Down syndrome Characterized by trisomy 18, partial trisomy of chromosome 18, or translocation Pregnant mothers may be observed to have login to view 4 more bullets Epidemiology Relatively common, though not as common as trisomy 21 More frequently observed in females > males (3:1) ETIOLOGY Associated with development of multiple comorbidites including login to view 2 more bullets Presentation Symptoms login to view 2 more bullets Physical exam login to view 20 more bullets IMAGING CXR login to view 1 more bullet KUB login to view 1 more bullet Echocardiogram login to view 1 more bullet STUDIES Prenatal exam of mother login to view 1 more bullet Genetic testing login to view 2 more bullets EKG login to view 1 more bullet Amniocentesis login to view 4 more bullets Chorionic villus sampling (CVS) login to view 4 more bullets Differential Other congenital genetic abnormalities including Down syndrome, Patau's syndrome, and the like Treatment Prevention login to view 2 more bullets Medical management login to view 13 more bullets Complications Include cardiac septal defects, severe renal disease, and mental retardation Prognosis 50% of children born with this disorder do not survive the 1st week of life Most die before 1 year of age Some cases have been reported on children surviving into teenage years, though with multiple medical problems