Article
CHARGE-like presentation, craniosynostosis and mild Mowat-Wilson Syndrome diagnosed by recognition of the distinctive facial gestalt in a cohort of 28 new cases.
American journal of medical genetics. Part A - 1 Oct 2014
Wenger Tara L, Harr Margaret, Ricciardi Stefania, Bhoj Elizabeth, Santani Avni, Adam Margaret P, Barnett Sarah S, Ganetzky Rebecca, McDonald-McGinn Donna M, Battaglia Domenica, Bigoni Stefania, Selicorni Angelo, Sorge Giovanni, Monica Matteo Della, Mari Francesca, Andreucci Elena, Romano Silvia, Cocchi Guido, Savasta Salvatore, Malbora Baris, Marangi Giuseppe, Garavelli Livia, Zollino Marcella, Zackai Elaine H
Abstract excerpt
Mowat-Wilson syndrome (MWS) is characterized by moderate to severe intellectual disability and distinctive facial features in association with variable structural congenital anomalies/clinical features including congenital heart disease, Hirschsprung disease, hypospadias, agenesis of the corpus callosum, short stature, epilepsy, and microcephaly. Less common clinical features include ocular anomalies,...
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