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Cynthia M. Powell, MD

Associate Professor; Division Chief, Pediatric Genetics and Metabolism

Department of Pediatrics
    Division of Genetics and Metabolism

Services:
Pediatrics, Genetics and Metabolism
Dentistry, UNC Craniofacial Center

Procedures/Research:
Genetics of hearing loss; genetic and chromosomal syndromes; ethical issues in genetics; and newborn screening.

Special Interests:
Cytogenetics; dysmorphology; and hearing loss.
 
Clinical Appointment Phone:  (919) 966-1401
Work Phone:  919-966-4202

Website: http://www.ncchildrenshospital.org/ourservices/specialties/genetics-metabolism
Cynthia M. Powell, MD

Certifications
Clinical Cytogenetics - Board Certified  (1993)
Clinical Genetics - Board Certified  (1993)
Pediatrics - Board Certified  (1990)
Genetic Counseling - Board Certified  (1982)

Education and Training
Fellowship: Children's National Medical Center/National Institutes of Health, Washington, DC, 1990 - 1993
Area: Clinical Genetics and Clinical Cytogenetics
Residency: Children's National Medical Center, Washington, DC, 1987 - 1990
Area: Pediatrics
Medical School: MD, Medical College of Virginia, Richmond, VA, 1987

Professional Positions
  1. Board of Directors and Executive Committee (Treasurer), American Board of Medical Genetics

  2. Member of Residency Review Committee for Medical Genetics, Accreditation Council for Graduate Medical Education

  3. Executive Committee, American Academy of Pediatrics, Section on Genetics and Birth Defects

Presentations
  1. A survey assessing parental attitudes and genetic services for early-onset hearing loss
    Authors: Powell CM, Roche MI
    American College of Medical Genetics Annual Clinical Genetics Meeting, Phoenix, Arizona, 2008

  2. Etiology in congenital and early onset hearing loss
    Authors: Powell CM, Kimani J, Booker J, Buchman C, Weck K
    American College of Medical Genetics Annual Clinical Genetics Meeting, Tampa, FL, 2009

  3. Genetic Evaluation for Children with Autism
    Pediatric Grand Rounds, WakeMed Hospital, Raleigh, North Carolina, 2009

  4. Sakoda complex with prenatal lamotrigine exposure: possible clue to etiology?
    Authors: Powell CM
    30th Annual David W. Smith Workshop on Morphogenesis and Malformations, Philadelphia, Pennsylvania, 2009

Publications
  1. Ethical, legal, and social concerns about expanded newborn screening: fragile X syndrome as a prototype for emerging issues
    Authors: Bailey DB, Skinner D, Davis A, Whitmarsh I, Powell C
    Pediatrics; 121(3):e693-704, 2008

  2. Native American myopathy: Congenital myopathy with cleft palate, skeletal anomalies, and susceptibility to malignant hyperthermia
    Authors: Stamm DS, Aylsworth AS, Stajich JM, Kahler SG, Thorne LB, Speer MC, Powell CM
    Am J Med Genet A;146A(14):1832-41, 2008 Jul 15

  3. Novel congenital myopathy locus identified in Native American Indians at 12q13.13-14.1
    Authors: Stamm DS, Powell CM, Stajich JM, Zismann VL, Stephan DA, Chesnut B, Aylsworth AS, Kahler SG, Deak KL, Gilbert JR, Speer MC
    Neurology;71(22):1764-9, 2008 Nov 25

  4. Weaver syndrome and neuroblastoma
    Authors: Coulter D, Powell CM, Gold S
    J Pediatr Hematol Oncol, (10):758-60, 2008 Oct 30

  5. Novel mutation and the first prenatal screening of cathepsin D deficiency (CLN10)
    Authors: Fritchie K, Siintola E, Armao D, Lehesjoki AE, Marino T, Powell C, Tennison M, Booker JM, Koch S, Partanen S, Suzuki K, Tyynelä J, Thorne LB
    Acta Neuropathol;117(2):201-8, 2009 Feb

  6. Seizures in Prader-Willi syndrome: a study of 56 patients and review of the literature
    Authors: Fan Z, Greenwood R, Fisher A, Pendyal S, Powell CM
    Am J Med Genet A [Epub ahead of print], 2009 Jun 16


Physician Referral:
You can request a physician referral by calling UNC HealthLink at (919) 966-7890,
8:30 a.m. to 5 p.m., Monday through Friday.