Positions

• University of Iowa Children’s Hospital / UIHC
• University of Iowa Carver College of Medical Genetics
• Clinical Professor of Pediatrics Division of Medical Genetics, Department of Pediatrics, University of Iowa
• Clinical Director for Birth Defects, Iowa Registry for Congenital and Inherited Disorders
• Program Director, Medical Genetics Residency Training Program, Division of Medical Genetics, University of Iowa Hospitals and Clinics

Medical/Graduate School
Southern Illinois University, School of Medicine

Residency
University of Arkansas for Medical Science / Arkansas Children's Hospital

Fellowship
University of Alabama at Birmingham / Laboratory of Medical Genetics

Clinical Interests
Evaluation and treatment of children and adults with genetic disorders, neurodevelopmental problems and birth defects.

Research Interests
Areas of interest include the epidemiology and distribution of birth defects, genetic syndromes and chromosomal disorders; contribution of genetic disorders to childhood morbidity and mortality; and clinical delineation of multiple malformation syndromes.  The specific malformations and disorders in theses areas of interest include:  hydrocephalus, cloacal exstrophy and OEIS complex, abdominal wall defects, microgastria, laterality defects, septo-optic dysplasia.  The specific syndromes studied have included:  Fetal alcohol syndrome, Noonan syndrome, costello syndrome, Mowat-Wilson syndrome, Kabuki syndrome, Down syndrome, 1p deletion syndrome, 18p deletion syndrome, 22q11 microdeletion syndrome, and X-linked mental retardation syndromes, including Alpha-thalassemia/mental retardation-X-linked syndrome.

Recent Publications

1. Keppler-Noreuil KM, Gorton S, Foo F, Yankowitz J, Keegan C.  Prenatal Ascertainment of OEIS Complex/cloacal Exstrophy – 15 New Cases & Literature Review.  Am J Med Genet, 2007;143A:2122-2128.
2. Keppler-Noreuil KM, Welch J, Baker-Lange K.  "Syndrome of Congenital Cataracts, Sensorineural Deafness, Down Syndrome-Like Facial Appearance, Short Stature, and Mental Retardation: Two Additional Cases." American Journal of Medical Genetics Part A 143A (2007): 2581-2587.
3. Olsen, CK, Keppler-Noreuil KM, Romitti P, Budelier WT, Sparks AET, Van Voorhis BJ.  In vitro fertilization is associated with an increase in major birth defects.  Fertility and Sterility, 84(5),2005.
4. Rasmussen SA, Olney RS, Holmes LB, Lin AE, Keppler-Noreuil KM, Moore CA and the National Birth Defects Prevention Study.  Guidelines for case classification for the National Birth Defects Prevention Study.  Birth Defects Research (Part A), 2003;67:193-201.
5. Keppler-Noreuil KM, Welch JL, Major HJ, Qiau Q, Jordan DK, Shivanand RP:  Atypical Down Syndrome phenotype with severe developmental delay, hypertonia and seizures in a child with translocation trisomy 21.  Developmental Medicine & Child Neurology, 2002;44:64-67.
6. Keppler-Noreuil KM, OEIS Complex (Omphalocele-Exstrophy-Imperforate Anus-Spinal Defects):  A review of 14 cases.  American Journal of Medical Genetics, 2001;99:271-279.

E-mail: kim-keppler@uiowa.edu