Table of Contents
Washington University Experience | DEVELOPMENTAL MALFORMATIONS | Encephalocele - Complex Malformation | 1A0 Case 1 History
The patient was a 30-week EGA infant who lived for 2 days after birth. Cytogenetic examination demonstrated an interstitial deletion on the long arm of chromosome 2 at q31.2 (200Kb) and an interstitial duplication of chromosome 22 at q11.21 (5.549 Mb). The latter in particular is associated with a wide range of phenotypic defects (e.g., frontomedial polymicrogyria, corpus callosum agenesis, septum pellucidum abnormalities). In the current case there were multiple facial anomalies including cleft lip, cleft palate, misplaced and dysmorphic ears, lack of normal nasal cavity and paranasal sinuses and underdeveloped orbits.
