Helga Valdmanis Toriello PhD, FACMG (1952 – present) is an American Medical Geneticist, dysmorphologist and health facility administrator.
She is the Professor of Pediatrics and Human Development at the College of Human Medicine, Michigan State University, and Director of clinical genetics at Spectrum Health Hospitals in Grand Rapids.
Eponymously affiliated with the description of Toriello-Carey syndrome in 1988.
- 1952 – Born Helga Teresa Valdmanis on May 20 in Sharon, Connecticut
- 1970-1974 – Bachelor of Science (biology), Cornell University
- 1975 – Master of Science (Genetic Counseling/Counselor), Rutgers University, New Brunswick
- 1976-1982 – PhD, Michigan State University
- 1977 – Marriage to Dean Toriello, MD with two children
- 1978-1987 – Founded the Genetics and Pediatric Neurology Clinic at Blodgett Hospital, Grand Rapids
- 1982-1991 – Chairperson of the Practice and Policy Guidelines Committee of the American College of Medical Genetics
- 1987 – Director of genetics services, Butterworth Hospital, Grand Rapids
- Professor of Pediatrics and Human Development, College of Human Medicine, Michigan State University, Grand Rapids, Michigan
- FACMG, Fellow of the American College of Medical Genetics
- Director of clinical genetics at Spectrum Health Hospitals in Grand Rapids, MI
Toriello-Carey syndrome (1988)
[Also known as: Alternate names: Corpus callosum agenesis facial anomalies Robin sequence; Corpus callosum agenesis-blepharophimosis-Robin sequence syndrome; Agenesis of corpus callosum with facial anomalies and Robin sequence]
Toriello-Carey syndrome is a multiple congenital anomaly disorder with variable systemic manifestations. These most commonly include mental retardation, agenesis of the corpus callosum, postnatal growth delay, cardiac defects, usually septal defects, distal limb defects, and urogenital anomalies in affected males. [OMIM %217980]
In 1988, Toriello and Carey described findings in four children, three of them siblings, who appeared to have a previously un-described multiple congenital anomaly (MCA) syndrome. The manifestations included agenesis of the corpus callosum, telecanthus, short palpebral fissures, small nose with anteverted nares, Pierre Robin sequence, abnormally shaped ears, redundant neck skin, laryngeal anomalies, cardiac defect, short hands, and hypotonia. The affected sibship consisted of a girl and apparently monozygotic twin boys who died in the immediate neonatal period.
- Toriello HV, Lindstrom JA, Waterman DF, Baughman FA. Re-evaluation of CHANDS. J Med Genet. 1979;16(4):316-317.
- Toriello HV, Carey JC. Corpus callosum agenesis, facial anomalies, Robin sequence, and other anomalies: a new autosomal recessive syndrome? Am J Med Genet. 1988;31(1):17-23.
- Toriello HV. Wiedemann-Rautenstrauch syndrome. J Med Genet. 1990;27(4):256-257.
- Toriello HV, Carey JC, Suslak E, et al. Six patients with oral-facial-digital syndrome IV: the case for heterogeneity. Am J Med Genet. 1997;69(3):250-260.
- Toriello HV, Carey JC, Addor MC, et al. Toriello-Carey syndrome: delineation and review. Am J Med Genet A. 2003;123A(1):84-90.
- Toriello HV, Meck JM. Professional Practice and Guidelines Committee. Statement on guidance for genetic counseling in advanced paternal age. Genet Med. 2008;10(6):457-460
- Toriello HV, Smith SD. Hereditary Hearing Loss and Its Syndromes (Oxford Monographs on Medical Genetics) 3e. 2013
- Toriello H. The Genetics of Luck. Genet Med 2015; 17: 164–165
- Toriello HV, Colley C, Bamshad M. Update on the Toriello-Carey syndrome. Am J Med Genet A. 2016;170(10):2551-2558
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