Howard M. Saal, MD, FACMG
- Director, Genetics and Genomics Diagnostic Laboratory, Division of Human Genetics
- Director, Cytogenetics Laboratory
- Co-Director, 22Q-VCFS Center
- Medical Director, Craniofacial Center
- Professor, UC Department of Pediatrics
- howard.saal@cchmc.org
- Board Certified
About
Biography
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, Pierre Robin sequence and 22Q-VCFS.
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.
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.
Interests
Craniofacial disorders; community genetics; growth disorders; 22Q-VCFS.
Services and Specialties
Genetics, Neurofibromatosis, Craniofacial Disorders, Hereditary Cancer, 22Q-VCFS, Speech-Language Pathology, Differences of Sex Development, Upper Airway, Treacher Collins
Interests
Genetic etiologies and natural histories of craniofacial disorders and new syndrome delineation
Research Areas
Human Genetics
Insurance Information
Cincinnati Children's strives to accept a wide variety of health plans. Please contact your health insurance carrier to verify coverage for your specific benefit plan.
Publications
Risk-reducing mastectomy and breast cancer mortality in women with a BRCA1 or BRCA2 pathogenic variant: an international analysis. British Journal of Cancer. 2024; 130:269-274.
P141: Persistent growth-promoting effects of vosoritide in children with achondroplasia is accompanied by improvement in physical aspects of quality of life*. 2024; 2:101038.
P131: Persistence of growth-promoting effects in infants and toddlers with achondroplasia: Results from a phase II extension study with vosoritide*. 2024; 2:101028.
P139: Persistent growth-promoting effects of vosoritide in children with achondroplasia for up to 4 years: Update from phase 3 extension study*. 2024; 2:101036.
Vosoritide therapy in children with achondroplasia aged 3-59 months: a multinational, randomised, double-blind, placebo-controlled, phase 2 trial. The Lancet Child and Adolescent Health. 2024; 8:40-50.
A randomized controlled trial of vosoritide in infants and toddlers with Achondroplasia. Zeitschrift für Geburtshilfe und Neonatologie. 2023; 227:e165-e166.
THU181 Evaluation Of Bone Mineral Density In A Cohort Of Children With ACH Participating In The PROPEL 2 Study Of Infigratinib. Journal of the Endocrine Society. 2023; 7:bvad114.1432.
THU165 PROPEL, PROPEL 2 And PROPEL OLE Studies Of Infigratinib In Children With Achondroplasia: Design And Status Of 3 Ongoing Trials. Journal of the Endocrine Society. 2023; 7:bvad114.1416.
OR27-03 Oral Infigratinib Treatment Is Well Tolerated And Significantly Increases Height Velocity In Children With Achondroplasia: Month 6 Results From The PROPEL 2 Dose-finding Study. Journal of the Endocrine Society. 2023; 7:bvad114.1525.
Tamoxifen and the risk of breast cancer in women with a BRCA1 or BRCA2 mutation. Breast Cancer Research and Treatment. 2023; 201:257-264.
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