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Yunis–varon syndrome: Further delineation of cardiovascular and endocrine outcome
Author(s) -
Varghese P.,
Collins N.,
Warner G.,
Leitch J.,
Ho E.,
Crock P.
Publication year - 2014
Publication title -
american journal of medical genetics part a
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 1.064
H-Index - 112
eISSN - 1552-4833
pISSN - 1552-4825
DOI - 10.1002/ajmg.a.35741
Subject(s) - medicine , endocrine system , short stature , endocrinology , cardiology , hormone
Yunis–Varon syndrome is a rare autosomal recessive condition initially characterized by specific skeletal and ectodermal abnormalities, and a poor prognosis, due to neurological and cardiovascular involvement. We describe the cardiovascular and endocrine complications in a 26‐year‐old man who had been reported previously, adding dilated cardiomyopathy to the clinical features consistent with Yunis–Varon syndrome. Short stature, successfully treated with growth hormone, and hypertension secondary to bilateral renal artery stenosis expand the phenotype. © 2014 Wiley Periodicals, Inc.