TY - JOUR
T1 - Genetic conditions of short stature
T2 - A review of three classic examples
AU - Butler, Merlin G.
AU - Miller, Bradley S.
AU - Romano, Alicia
AU - Ross, Judith
AU - Abuzzahab, M. Jennifer
AU - Backeljauw, Philippe
AU - Bamba, Vaneeta
AU - Bhangoo, Amrit
AU - Mauras, Nelly
AU - Geffner, Mitchell
N1 - Funding Information:
Novo Nordisk Inc. (Plainsboro, NJ) financial support was limited to medical writing support, as indicated in the Acknowledgments section.
Publisher Copyright:
Copyright © 2022 Butler, Miller, Romano, Ross, Abuzzahab, Backeljauw, Bamba, Bhangoo, Mauras and Geffner.
PY - 2022/10/21
Y1 - 2022/10/21
N2 - 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.
AB - 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.
KW - Noonan syndrome
KW - Prader-Willi syndrome
KW - Turner syndrome
KW - genetics
KW - growth hormone
KW - short stature
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U2 - 10.3389/fendo.2022.1011960
DO - 10.3389/fendo.2022.1011960
M3 - Review article
C2 - 36339399
AN - SCOPUS:85141376925
SN - 1664-2392
VL - 13
JO - Frontiers in Endocrinology
JF - Frontiers in Endocrinology
M1 - 1011960
ER -
