Yunis-Varon syndrome: further delineation of the phenotype.
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.
Basel-Vanagaite
Lina
L
Department of Medical Genetics, Schneider Children's Medical Center of Israel and Rabin Medical Center, Beilinson Campus, Petah Tikva, Israel. basel@post.tau.ac.il
Kornreich
Liora
L
Schiller
Ofer
O
Yacobovich
Joanne
J
Merlob
Paul
P
D002490:Central Nervous System / Q000002:abnormalities / Q000503:physiopathology; D003071:Cognition / Q000502:physiology; D019465:Craniofacial Abnormalities / Q000150:complications / Q000175:diagnosis; D004476:Ectodermal Dysplasia / Q000175:diagnosis; D005260:Female; D006801:Humans; D007231:Infant, Newborn; D017880:Limb Deformities, Congenital / Q000175:diagnosis*; D008297:Male; D006831:Polyhydramnios / Q000175:diagnosis; D011247:Pregnancy; D013577:Syndrome