Dandy walker variant an association with Rubinstein Taybi syndrome

Abstract

Rubinstein Taybi syndrome is a rare malformative syndrome characterised by dysmorphic features and mental retardation. In the neonatal period the diagnosis can be facilitated by the presence of broad thumbs and great toes. Psychomotor and social retardation is present in most of the patients.Most cases are sporadic. The present case has all the main characteristics of RubinTaybi syndrome associated with dandy walker variant diagnosed on antenatal MRI as well as post natal Ct scan. CASE REPORT A female first born infant was delivered at term by caesarean section. She was found to have a Dandy walker variant on the antenatal scans and later was confirmed by the foetal MRI. Figure 1 Cystic dilatation with agenesis of Cerebellar vermis. Post natal Ct confirmed the same. Figure 2 Cerebellar vermis agenesis with cystic dilatation Mother declined all genetic screening. A term neonate born to a primigravida by caesarean section was found to have clinical features consistent with Rubinstein Taybi syndrome. She weighed 2.8 kg had a head circumference of 32 cms .She was found to have hypertrichosis, low hair line, marked hypertelorism, short filtrum ,puffy eye lids and broad toes and thumbs. Dandy walker variant an association with Rubinstein Taybi syndrome