Genetics in Primary Care Institute (AAP)
The goal of this site is to increase collaboration in the care of children with known or suspected genetic disorders. It includes health supervision guidelines and other useful resources; represents a collaboration among the Health Resources & Services Administration, the Maternal and Child Health Bureau, and the American Academy of Pediatrics.
Pendred Syndrome (NIDCD)
from the National Institute on Deafness and Other Communication Disorders
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Borck G, Seewi O, Jung A, Schönau E, Kubisch C.
Genetic causes of goiter and deafness: Pendred syndrome in a girl and cooccurrence of Pendred syndrome and resistance to thyroid hormone in her sister.
J Clin Endocrinol Metab. 2009;94(6):2106-9. PubMed abstract
|Content Last Updated:||8/2010|
GeneTests Home Page.
(2005) http://www.genetests.org. Accessed on 02/03/05.
provides information concerning diagnosis, management, and genetic counseling in Pendred syndrome. This site also provides information on clinically available genetic screens for the Pendred syndrome gene (PDS). Registration is required.
Li XC, Everett LA, Lalwani AK, Desmukh D, Friedman TB, Green ED, Wilcox ER.
A mutation in PDS causes non-syndromic recessive deafness.
Nat Genet. 1998;18(3):215-7. PubMed abstract
McKusick VA, Tiller GE, Hamosh A, Phillips JA, et al.
Pendred Syndrome; PDS- in Online Mendelian Inheritance in Man, OMIM (TM); MIM number: 274600.
McKusick-Nathans Institute for Genetic Medicine, Johns Hopkins University (Baltimore, MD) and National Center for Biotechnology Information, National Library of Medicine (Bethesda, MD); (2004) http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=274600. Accessed on 02/03/05.
provides a detailed medical description of Pendred syndrome, including alternative names, abbreviations, and the discoveries of various researchers.
Reardon W, Coffey R, Phelps PD, Luxon LM, Stephens D, Kendall-Taylor P, Britton KE, Grossman A, Trembath R.
Pendred syndrome--100 years of underascertainment?.
QJM. 1997;90(7):443-7. PubMed abstract