Ann C.M. Smith

Ann C. Morrison Smith American geneticist

Ann C. Morrison Smith American geneticist and genetic counselor

In the 1970s with the dawn of clinical genetic services, Smith developed the clinical genetics program at The Children’s Hospital in Denver; was a founding member of the National Society of Genetic Counselors; on the founding board of directors of the American Board of Medical Genetics.

Smith has authored over 100 articles, abstracts, and book chapters, many of which focus on the role, training and function of the genetic counselor in an age of technology and molecular testing, and the future shape of genetic services

In the 1980s, along with Ruth Ellen Magenis and colleagues, she identified and described the condition that would become known as Smith-Magenis syndrome. 


Biography
  • Born Ann C Morrison 1951
  • 1973 – BA in Biology, Colorado College
  • 1974 – Marriage to Ronald F Smith, taking name Ann C.M. Smith
  • 1975 – MA in Social Ecology, Human Genetics and genetic counseling, University of California Irvine
  • Clinical Director, Genetic Services, The Children’s Hospital, Denver
  • Assistant Professor, Department of Obstetrics and Gynecology at Georgetown University
  • 1981 – President, National Society of Genetic Counselors
  • 1992-1998 Secretary on the board of the American Society of Human Genetics
  • 1993 – Founding organizer of PRISMS, a support group for parents and researchers interested in Smith-Magenis Syndrome
  • 1994 – Unit Head, Translational Research and Laboratory Support Unit Medical Genetics Branch, NIH National Human Genome Research Institute (NHGRI)
  • 1997 – DSc (Hon), Colorado College

Medical Eponyms
Smith-Magenis syndrome (1986)

Smith-Magenis Syndrome (SMS) is a rare neurobehavioral disorder characterized by a recognizable pattern of physical, behavioral, and developmental features. Caused by particular genetic changes on chromosomal region 17p11.2, which contains the gene RAI1. [OMIM 182290]

Smith et al in 1982, first reported interstitial deletion of the short arm of chromosome 17 in two unrelated patients (patients 1 and 2 in the 1986 report) who presented with facial clefts and congenital heart defects.

In 1984, Patil and Bartley reported a 4-year-old girl with an interstitial deletion of chromosome 17p11.2. She had mental retardation, hypotonia, speech delay, small ears, conductive hearing loss, esotropia, dental enamel dysplasia, and prominent premaxilla. Cardiac examination was normal. 

In 1986, Smith, Ruth Ellen Magenis (1925-2014) et al described in detail the phenotype associated with an interstitial deletion of 17p11.2 in 7 further unrelated patients (following the 1982 report).

We describe a new and distinct syndrome involving an interstitial deletion of the short arm of chromosome 17 in nine unrelated patients (six males; three females) ranging in age from 3 months to 65 years. In eight patients, a deletion of a portion of band 17p11.2 was associated with a striking similar phenotype including brachycephaly, midface hypoplasia, prognathism, hoarse voice, and speech delay with or without hearing loss, psychomotor and growth retardation, and behavior problems. The one patient with a complete deletion of band 17p11.2 as more severely affected with facial malformations, cleft palate, and major anomalies of cardiac, skeletal, and genitourinary systems; the patient died at age 6 months.

Smith, Magenis et al 1986

Major Publications

References

Biography

Eponymous terms


The History of Smith Magenis Syndrome with Ann C. M. Smith, M.A., DSc (Hon)


eponymictionary CTA

eponym

the person behind the name

Studied at Univerisity of Cambridge - BA MB BChir. British doctor working in emergency medicine in Perth, Australia. Special interests include primary care and emergency medicine.

Emergency physician MA (Oxon) MBChB (Edin) FACEM FFSEM with a passion for rugby; medical history; medical education; and informatics. Asynchronous learning #FOAMed evangelist. Co-founder and CTO of Life in the Fast lane | Eponyms | Books | vocortex |

Leave a Reply

This site uses Akismet to reduce spam. Learn how your comment data is processed.