Clinical features in adult patient with Wolf-Hirschhorn syndrome

Features of the Wolf-Hirschhorn Syndrome (WHS) from Infant to Young Teenager

“…Concerning the facial dysmorphia correlated with the patient’s age, data from literature is contradictory. While some reports in the literature specify that facial phenotype is more nonspecific with age [ 14 , 18 , 19 , 20 ], other reports find that in adults the phenotype is similar to the one in children [ 21 , 22 ].…”

Estudo da variação do número de cópias gênicas (CNVs) em amostras post-mortem de malformados cardíacos congênitos (MCCs) sindrômicos

“…As malformações cardíacas mais frequentes descritas são defeitos de septo átrio e ventricular, de modo que são menos frequentes os defeitos de ducto arterioso patente e as cardiopatias complexas(von Elten et al, 2012;Martínez- …”