Lorenzo D. Botto, MD

Pediatrics - Professor

School of Medicine
Medical Genetics
30 N 1900 E
Salt Lake City, UT 84132
contact address


Lorenzo Botto, MD, is a professor of Pediatrics at the University of Utah School of Medicine. He trained in Europe and the United States in Pediatrics, Pediatric Cardiology, and Medical Genetics, with further subspecialty training in Biochemical Genetics. He trained in and practiced epidemiology and public health at the US Centers for Disease Control and Prevention (EIS and preventive medicine program) for over a decade. 

In the clinic, Dr. Botto focuses in particular on three areas: diagnosis and care of people with undiagnosed or rare conditions; skeletal dysplasias (genetic disorders of the bone); and inherited metabolic diseases (particularly those that affect the brain, the heart, and the production of energy).

Selected Bibliography:

Feldkamp ML, Botto LD, Byrne JL, Krikov S, Carey JC.
Clinical presentation and survival in a population-based cohort of infants with gastroschisis in Utah, 1997-2011.
Am J Med Genet A. 2016;170A(2):306-15. PubMed abstract

Reeder MR, Botto LD, Keppler-Noreuil KM, Carey JC, Byrne JL, Feldkamp ML.
Risk factors for Dandy-Walker malformation: a population-based assessment.
Am J Med Genet A. 2015;167A(9):2009-16. PubMed abstract

Botto LD, Krikov S, Carmichael SL, Munger RG, Shaw GM, Feldkamp ML.
Lower rate of selected congenital heart defects with better maternal diet quality: a population-based study.
Arch Dis Child Fetal Neonatal Ed. 2016;101(1):F43-9. PubMed abstract

Botto LD, Flood T, Little J, Fluchel MN, Krikov S, Feldkamp ML, Wu Y, Goedken R, Puzhankara S, Romitti PA.
Cancer risk in children and adolescents with birth defects: a population-based cohort study.
PLoS One. 2013;8(7):e69077. PubMed abstract / Full Text

Reeder MR, Kim J, Nance A, Krikov S, Feldkamp ML, Randall H, Botto LD.
Evaluating cost and resource use associated with pulse oximetry screening for critical congenital heart disease: Empiric estimates and sources of variation.
Birth Defects Res A Clin Mol Teratol. 2015;103(11):962-71. PubMed abstract