2 documents found, page 1 of 1
Tympanic Membrane Retractions in patients with Williams Syndrome: A Controlled ...
Oliveira,Marcelo Wierzynski; Lavinsky,Joel; Valerio,Marcel Machado; Felix,Temis Maria; Lavinsky,LuizAbstract Introduction The role of elastin in tympanic retractions and chronic otitis media is not well established. Williams Syndrome (WS), a pathology related to a mutation in the elastin gene, could generate tympanic retractions. Objective To compare the prevalence of tympanic retractions among patients with WS and controls. Methods WS patients (n= 43 ears) and controls (n= 130 ears) were evaluated by digital...
A further case of a Prader-Willi syndrome phenotype in a patient with Angelman ...
De Molfetta,Greice Andreotti; Felix,Temis Maria; Riegel,Mariluce; Ferraz,Victor Evangelista de Faria; Pina Neto,João Monteiro deAngelman syndrome (AS) and Prader-Willi syndrome (PWS) are distinct human neurogenetic disorders; however, a clinical overlap between AS and PWS has been identified. We report on a further case of a patient showing the PWS phenotype with the AS molecular defect. Despite the PWS phenotype, the DNA methylation analysis of SNRPN revealed an AS pattern. Cytogenetic and FISH analysis showed normal chromosomes 15 and...