TY - JOUR
T1 - Yunis-Varon syndrome
T2 - Further delineation of the phenotype
AU - Basel-Vanagaite, Lina
AU - Kornreich, Liora
AU - Schiller, Ofer
AU - Yacobovich, Joanne
AU - Merlob, Paul
PY - 2008/2/15
Y1 - 2008/2/15
N2 - 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.
AB - 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.
KW - Hydrops fetalis
KW - Limb defects
KW - Primary pulmonary hypertension
KW - Yunis-Varon syndrome
UR - http://www.scopus.com/inward/record.url?scp=38849193482&partnerID=8YFLogxK
U2 - 10.1002/ajmg.a.32135
DO - 10.1002/ajmg.a.32135
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C2 - 18203163
AN - SCOPUS:38849193482
SN - 1552-4825
VL - 146
SP - 532
EP - 537
JO - American Journal of Medical Genetics, Part A
JF - American Journal of Medical Genetics, Part A
IS - 4
ER -
