Currarino syndrome and microcephaly due to a rare 7q36.2 microdeletion: a case report

• Main Authors: Lucia Cococcioni (Author), Susanna Paccagnini (Author), Elena Pozzi (Author), Luigina Spaccini (Author), Elisa Cattaneo (Author), Serena Redaelli (Author), Francesca Crosti (Author), Gian Vincenzo Zuccotti (Author)
• פורמט: ספר
• יצא לאור: BMC, 2018-05-01T00:00:00Z.
• נושאים: article
• גישה מקוונת: Connect to this object online.

Abstract Background Currarino syndrome is a rare condition characterized by presacral mass, anorectal malformation and sacral dysgenesis. Case presentation We report the case of a child that presented chronic constipation, encopresis and mycrocephaly. The characteristics were initially compatible wi...