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Yunis–Varon syndrome: Further delineation of the phenotype
Author(s) -
BaselVanagaite Lina,
Kornreich Liora,
Schiller Ofer,
Yacobovich Joanne,
Merlob Paul
Publication year - 2008
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.32135
Subject(s) - medicine , phenotype , hydrops fetalis , hypotrichosis , ossification , pediatrics , fetus , pregnancy , surgery , biology , genetics , gene
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.