Yunis-Varon syndrome: further delineation of the phenotype.

Abstract

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.

• Authors: Lina Basel-Vanagaite, Liora Kornreich, Ofer Schiller, Joanne Yacobovich, Paul Merlob
• Journal: American journal of medical genetics. Part A (Am J Med Genet A) Vol. 146A Issue 4 Pg. 532-7 (Feb 15 2008) ISSN: 1552-4833 [Electronic] United States
• PMID: 18203163 (Publication Type: Case Reports, Journal Article, Review)

Topics

• Central Nervous System (abnormalities, physiopathology)
• Cognition (physiology)
• Craniofacial Abnormalities (complications, diagnosis)
• Ectodermal Dysplasia (diagnosis)
• Female
• Humans
• Infant, Newborn
• Limb Deformities, Congenital (diagnosis)
• Male
• Polyhydramnios (diagnosis)
• Pregnancy
• Syndrome