Prenatal diagnosis of an epignathus associated with a 49, XXXXY karyotype – a case report

Aims: An epignathus is a rare form of congenital teratoma, originating from the base of the skull,most commonly the hard palate,or mandible.It has been associated with a poor prognosis due to complications including polyhydramnios and respiratory compromise at birth as a consequence of upper airway obstructions.It is usually not associated with chromosomal aberrations.We present a case of prenatal diagnosed epignathus associated with a gonosomal pentasomy 49,XXXXY. Case: A I-Gravida,0-Para was referred to our unit with a suspected gastroschisis at 26+6 weeks gestation. Performed detailed ultasound scan revealed…