Howard M. Saal, MD, FACMG
Title
Director, Clinical Genetics; Director, Cytogenetics Laboratory
Appointment
Professor of Pediatrics, University of Cincinnati College of Medicine
Email
howard.saal@cchmc.org
Phone
513-636-4760
Fax
513-636-7297
Bio
Howard M. Saal, MD, a highly respected clinical geneticist and dysmorphologist, is the head of the section of Clinical Genetics in the Division of Human Genetics at Cincinnati Children's Hospital Medical Center. In addition to being board certified in clinical genetics and pediatrics, Dr. Saal is a board certified cytogeneticist.
Early in his career, he was the Director of the Cytogenetics Laboratory at the University of Connecticut Health Center, where he was also the associate director of the Craniofacial Disorders Team.
Dr. Saal is interested in the genetic causes of craniofacial disorders, especially cleft lip and cleft palate. He also has a significant interest in the natural history of genetic conditions, and has authored or co-authored numerous publications centering on the natural history and management of various genetic conditions, with special attention to neurofibromatosis, cleft lip, cleft palate, and Pierre Robin sequence.
After leaving Connecticut, Dr. Saal went to Children's National Medical Center in Washington, DC, where he was the Vice-Chairman of the Department of Medical Genetics and Co-Director of the Craniofacial Center. His clinical activities included establishment of the Neurofibromatosis Clinic, the Biochemical Genetics Clinic, and the multidisciplinary Skeletal Dysplasia Clinic with his colleagues at Children's National Medical Center. His interest in community activities led to his being named to the Health Professionals Advisory Committee and later to the Board of Directors of the National Capital Area March of Dimes.
Dr. Saal joined the staff at Cincinnati Children's in 1993 as the Head of Clinical Genetics. He has been an active participant in numerous clinical settings and has established the Hereditary Cancer Program, a unique local resource for families with familial and inherited cancers.
Dr. Saal is involved in community activities and has established urban genetics outreach clinics at three sites in Hamilton County. He has also been appointed as acting director of the Craniofacial Center at Cincinnati Children's, where he continues to cultivate his interests in the care of children with craniofacial disorders.
Credentials
MD: Wayne State University, Detroit, MI, 1975-1979.
Internship: University of Connecticut Integrated Program in Pediatrics, Farmington, CT, 1979-1980.
Residency: University of Connecticut Integrated Program in Pediatrics, Farmington, CT, 1980-1982.
Fellowship: University of Washington School of Medicine Division of Medical Genetics, Seattle, WA, 1982-1984.
Certification: American Board of Medical Genetics in Cytogenetics and Clinical Genetics, 1984; American Board of Pediatrics, 1985.
Awards and Honors
- Best Doctors in America, 2008
- Appointed Chair, Committee on Genetics, American Academy of Pediatrics, 2007
- Awarded Tenure (Professor of Pediatrics), Cincinnati Children's Hospital Medical Center and University of Cincinnati College of Medicine, Department of Pediatrics – 2006
- Listed in Who's Who in North America, Who's Who in Healthcare
- Listed in "America's Best Doctors", 2002, 2003, 2004, 2005, 2006
Research
Clinical and research interests in genetic etiologies and natural histories of craniofacial disorders and new syndrome delineation
Publications, Most Recent
Baboiu O, Collins M, Saal HM, Hepatic mesenchymal hamartoma: cytogenetic analysis of a case and review of the literature. Pediatric Pathology 2008;11(4):295-299
Kotsopoulos J, Lubinski J, Lynch HT, Klijn J, Ghadirian P, Neuhausen SL, Kim-Sing C, Foulkes WD, Moller P, Isaacs C, Domchek S, Randall S, Offit K, Tung N, Ainsworth P, Gershoni-Baruch R, Eisen A, Daly M, Karlan B, Saal HM, Couch F, Pasini B, Wagner T, Friedman E, Rennert G, Eng C, Weitzel J, Sun P, Narod SA; The Hereditary Breast Cancer Clinical Study Group. Age at first birth and the risk of breast cancer in BRCA1 and BRCA2 mutation carriers. Breast Cancer Res Treat 2007;10(2)5:221-228
Kogan JM, Egelhoff JC, Saal HM, Interstitial deletion of 13q associated with polymicrogyria. Am J Med Genet 2008;146A(7):910-916
Friedman, E, Kotsopoulos, J, Lubinski, J, Lynch, HT, Paviz, G, Neuhausen, SL, Isaacs, C, Weber, B, Foulkes, WD, Moller, P, Rosen, B, Kim-Sing, C, Gershoni-Baruch, R, Ainsworth, P, Daly, M, Tung, N, Eisen, A, Olopade, OI, Karlan, B, Saal, HM, Garber, JE, Rennert, G, Gilchrist, D, Eng, C, Offit, K, Osborne, M, Sun, P, Narod, SA. Spontaneous and therapeutic abortions and the risk of breast cancer among BRCA mutation carriers, Breast Cancer Res, 8(2): , 2006. (epub).
Gronwald, J, Tung, N, Offit, K, Gershoni, R, Daly, M, Kim-Sing, C, Olsson, H, Ainsworth, P, Eisen, A,
Saal, H, Friedman, E, Olopade, O, Osborne, M, Weitzel, J, Lynch, H, Ghadirian, P, Lubinski, J, Sun P, Narod, SA al. (2006). Tamoxifen and contralateral breast cancer in BRCA1 and BRCA2 carriers: an update. Int J Cancer 118(9): 2281-4. 2006.
Presentations, Most Recent
Saal, HM, Schorry, EK, Twinning predisposes to oculo-auriculo-vertebral dysplasia, Presented at the David W. Smith Workshop on Malformations and Morphogenesis, August 10, 2007.
Cardinal Signs: The Russell-Silver Syndrome. American College of Medical Genetics Annual Meeting, Nashville, TN, March 25, 2007.
Saal, HM, Kline-Fath, B, Crombleholme, T., Bender, P., Rothchild, D., Peach, E., Elluru, R, Willging, JP, Gordon, C., Hopkin, RJ, The role of fetal MRI for diagnosis and management of fetal micrognathia and Pierre Robin sequence, Presented at the David W. Smith Workshop on Malformations and Morphogenesis, September 10, 2006.
Craniofacial Genetics, National Human Genome Research Institute graduate course in Human Genetics,
National Institutes of Health, April 25, 2006.
Professional Organization Memberships
Books
Saal, H.M., The Genetics Evaluation and Common Craniofacial Syndromes. Cleft Palate and Craniofacial Anomalies: Effects on Speech and Resonance, Second Edition. A.W. Kummer, ed., San Diego, Thomson-Delmar Learning. 2008.
Saal HM,. Russell-Silver Syndrome (November 2006). In: GeneReviews: Genetic Disease Online Reviews at GeneTests-GeneClinics [database online]. Copyright, University of Washington, Seattle. Available at http://www.geneclinics.org.
Special Interests
Craniofacial disorders, community genetics, growth disorders
Related Areas
This person works in these other areas at Cincinnati Children's Hospital Medical
Center:
