title: Weissenbacher-Zweymüller syndrome: a distinct autosomal recessive skeletal dysplasia.
abstract: The Weissenbacher-Zweymüller syndrome (WZS) is defined as congenital neonatal rhizomelic dwarfism with metaphyseal widening of the long bones and vertebral coronal clefts. Catch-up growth after 2-3 years is one of the striking manifestations. It is generally thought that WZS is a neonatal expression of the Stickler syndrome, even though in the latter, myopia, retinal detachment and a progressive metaphyseal dysplasia are characteristics that are not found in WZS. A critical analysis of all published patients with WZS in addition to 5 patients in 3 new families, shows that the WZS is a distinct syndrome of delayed skeletal maturation, different from the Stickler syndrome, and inherited as an autosomal recessive trait. The recognition of its unique characteristics has important implications in genetic counseling.
authors.affiliation: Clinical Genetics Unit, Kaplan Hospital, Rehovot, Israel.
authors.forename: J
authors.initials: J
authors.lastname: Chemke
authors.forename: R
authors.initials: R
authors.lastname: Carmi
authors.forename: A
authors.initials: A
authors.lastname: Galil
authors.forename: Y
authors.initials: Y
authors.lastname: Bar-Ziv
authors.forename: I
authors.initials: I
authors.lastname: Ben-Ytzhak
authors.forename: L
authors.initials: L
authors.lastname: Zurkowski
mesh_terms: D001848:Bone Diseases, Developmental / Q000151:congenital / Q000235:genetics*; D002648:Child; D002675:Child, Preschool; D004392:Dwarfism / Q000151:congenital / Q000235:genetics*; D005260:Female; D005808:Genes, Recessive; D006801:Humans; D008297:Male; D010641:Phenotype; D013577:Syndrome