How to cite this article: Basel-Vanagaite L, Kornreich L, Schiller O, Yacobovich J, Merlob P. 2008. Yunis–Varon syndrome: Further delineation of the phenotype. Am J Med Genet Part A 146A:532–537.
Yunis–Varon syndrome: Further delineation of the phenotype†
Article first published online: 17 JAN 2008
Copyright © 2008 Wiley-Liss, Inc.
American Journal of Medical Genetics Part A
Volume 146A, Issue 4, pages 532–537, 15 February 2008
How to Cite
Basel-Vanagaite, L., Kornreich, L., Schiller, O., Yacobovich, J. and Merlob, P. (2008), Yunis–Varon syndrome: Further delineation of the phenotype. Am. J. Med. Genet., 146A: 532–537. doi: 10.1002/ajmg.a.32135
- Issue published online: 25 JAN 2008
- Article first published online: 17 JAN 2008
- Manuscript Accepted: 19 SEP 2007
- Manuscript Received: 8 JUL 2007
- Yunis–Varon syndrome;
- limb defects;
- hydrops fetalis;
- primary pulmonary hypertension
Yunis–Varon syndrome (YVS) is a rare autosomal recessive condition characterized by limb defects, ossification defects, generalized hypotrichosis and, frequently, a severe neonatal course. The molecular basis is unknown. We report on a newborn infant with previously undescribed findings, including hydrops fetalis, primary pulmonary hypertension and unusually severe abnormalities of toes. We review clinical data on 22 published cases in order to delineate the phenotype of this condition. Clinical recommendations for prenatal and postnatal evaluation of patients and fetuses at risk are discussed. © 2008 Wiley-Liss, Inc.