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

Fetal Diagn Ther. 2008;24(3):313-7. doi: 10.1159/000160219. Epub 2008 Oct 3.


Background: 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 prenatally diagnosed epignathus associated with a gonosomal pentasomy 49,XXXXY.

Case: A 34-year-old gravida 1, para 0 was referred to our unit with a sonographically suspected gastroschisis at 26+6 weeks' gestation. A detailed ultrasound scan revealed a large mixed echogenic mass seen in continuation with the mouth in the midline. Based on the appearance, an epignathus was suspected. No other fetal anomalies were detected. Karyotyping showed a 49,XXXXY karyotype of the fetus. The couple decided to continue the pregnancy after detailed counseling about results and prognosis. A cesarean section was necessary and performed at 29+0 weeks' gestation due to a pathological Doppler and cardiotocogram. Because of the enormous epignathus intubation of the newborn was not possible. A tracheostomy was performed for ventilation and oxygenation, which failed and the newborn died 30 min after birth.

Conclusion: Prenatal diagnosis by ultrasound has improved perinatal management. This should include assessment of the tumor size and spread in order to establish an accurate prognosis and to anticipate likely problems which are to be encountered during pregnancy or at the time of delivery. To our knowledge, this is the first reported case of a prenatally diagnosed epignathus with a gonosomal pentasomy 49,XXXXY.

Publication types

  • Case Reports

MeSH terms

  • Adult
  • Aneuploidy
  • Chromosomes, Human, X
  • Female
  • Fetal Diseases / diagnostic imaging*
  • Fetal Diseases / genetics
  • Fetal Diseases / pathology
  • Humans
  • Karyotyping
  • Pregnancy
  • Sex Chromosome Aberrations
  • Sex Chromosome Disorders / complications
  • Sex Chromosome Disorders / diagnostic imaging*
  • Sex Chromosome Disorders / genetics
  • Sex Chromosome Disorders / pathology
  • Skull Neoplasms / complications
  • Skull Neoplasms / diagnostic imaging*
  • Skull Neoplasms / genetics
  • Skull Neoplasms / pathology
  • Teratoma / complications
  • Teratoma / diagnostic imaging*
  • Teratoma / genetics
  • Teratoma / pathology
  • Ultrasonography, Prenatal