Genetic Conditions of Short Stature: A Review of Three Classic Examples

Authors

Merlin G. Butler, Department of Psychiatry & Behavioral Sciences, University of Kansas Medical Center, Kansas City, KS, United States.
Bradley S. Miller, Pediatric Endocrinology, University of Minnesota Masonic Children's Hospital, Minneapolis, MN, United States.
Alicia Romano, Department of Pediatrics, New York Medical College, Valhalla, NY, United States.
Judith Ross, Department of Pediatrics, Nemours Children's Health, Wilmington, DE, United States.
M Jennifer Abuzzahab, Diabetes and Endocrine Center, Children's Minnesota, Saint Paul, MN, United States.
Philippe Backeljauw, Cincinnati Children's Hospital Medical Center, University of Cincinnati College of Medicine, Cincinnati, OH, United States.
Vaneeta Bamba, Division of Endocrinology, Children's Hospital of Philadelphia; Department of Pediatrics, Perelman School of Medicine, University of Pennsylvania, Philadelphia, PA, United States.
Amrit Bhangoo, Pediatric Endocrinology, Children's Health of Orange County (CHOC) Children's Hospital, Orange, CA, United States.
Nelly Mauras, Division of Endocrinology, Nemours Children's Health, Jacksonville, FL, United States.
Mitchell Geffner, The Saban Research Institute, Children's Hospital Los Angeles, Los Angeles, CA, United States.

Author Type(s)

Faculty

Journal Title

Frontiers in Endocrinology

First Page

1011960

Document Type

Article

Publication Date

1-1-2022

Department

Pediatrics

Abstract

Noonan, Turner, and Prader-Willi syndromes are classical genetic disorders that are marked by short stature. Each disorder has been recognized for several decades and is backed by extensive published literature describing its features, genetic origins, and optimal treatment strategies. These disorders are accompanied by a multitude of comorbidities, including cardiovascular issues, endocrinopathies, and infertility. Diagnostic delays, syndrome-associated comorbidities, and inefficient communication among the members of a patient's health care team can affect a patient's well-being from birth through adulthood. Insufficient information is available to help patients and their multidisciplinary team of providers transition from pediatric to adult health care systems. The aim of this review is to summarize the clinical features and genetics associated with each syndrome, describe best practices for diagnosis and treatment, and emphasize the importance of multidisciplinary teams and appropriate care plans for the pediatric to adult health care transition.

Recommended Citation

Butler, M. G., Miller, B. S., Romano, A., Ross, J., Abuzzahab, M. J., Backeljauw, P., Bamba, V., Bhangoo, A., Mauras, N., & Geffner, M. (2022). Genetic Conditions of Short Stature: A Review of Three Classic Examples. Frontiers in Endocrinology, 13, 1011960. https://doi.org/10.3389/fendo.2022.1011960