Yunis-varon syndrome: further delineation of cardiovascular and endocrine outcome

Am J Med Genet A. 2014 May;164A(5):1213-7. doi: 10.1002/ajmg.a.35741. Epub 2014 Mar 7.

Abstract

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.

Keywords: Yunis-Varon syndrome; cardiomyopathy; growth hormone.

Publication types

  • Case Reports

MeSH terms

  • Abnormalities, Multiple / diagnosis
  • Abnormalities, Multiple / genetics
  • Cardiovascular Abnormalities / diagnosis
  • Cardiovascular Abnormalities / genetics
  • Child
  • Child, Preschool
  • Cleidocranial Dysplasia / diagnosis*
  • Cleidocranial Dysplasia / genetics
  • Diagnosis, Differential
  • Ectodermal Dysplasia / diagnosis*
  • Ectodermal Dysplasia / genetics
  • Electrocardiography
  • Endocrine System Diseases / congenital
  • Endocrine System Diseases / diagnosis
  • Growth Charts
  • Humans
  • Limb Deformities, Congenital / diagnosis*
  • Limb Deformities, Congenital / genetics
  • Male
  • Micrognathism / diagnosis*
  • Micrognathism / genetics
  • Phenotype
  • Radiography, Thoracic

Supplementary concepts

  • Yunis Varon syndrome