Sonographic diagnosis of epignathus (oral teratoma), prosencephaly, meromelia and oligohydramnios in a fetus with trisomy 13

Yapar, Elif Gül; EKlCI, E.; Gökmen, Oya

doi:10.1097/00019605-199507000-00013

Cited by 30 publications

(23 citation statements)

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“…A few cases have been reported with associated chromosomal aberrations, such as 45,X/46X,r(X) mosaicism, trisomy 13, duplication of 1q and 19p and inverted proximal 1q duplication [9][10][11] . But in most of the described cases of epignathi and teratomas no chromosomal anomalies were detected.…”

Section: Discussionmentioning

confidence: 99%

Prenatal Diagnosis of an Epignathus Associated with a 49,XXXXY Karyotype – A Case Report

Staboulidou¹,

Miller²,

Göhring³

et al. 2008

Fetal Diagn Ther

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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.

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Section: Discussionmentioning

confidence: 99%

Prenatal Diagnosis of an Epignathus Associated with a 49,XXXXY Karyotype – A Case Report

Staboulidou¹,

Miller²,

Göhring³

et al. 2008

Fetal Diagn Ther

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“…Кроме того, ряд тератом сочеталась с раз-личными хромосомными нарушениями, в част-ности, трисомией 13, пентасомией (49XXXXY), кольцевой X хромосомой, или гене-тическими мутациями (в частности, HLXB9) [26][27][28][29]. В ли-тературе также имеются описания наблюдений сочетания эпигнатуса с генетическими синдро-мами: синдромом Айкарди (Aicardi) (агенезия мозолистого тела, инфантильный спазм и ано-малии глаза) и синдромом Пьера Робена (PierreRobin) (недоразвитие нижней челюсти (нижняя микрогна-тия), глоссоптоз (недоразвитие и за-падание языка) и наличие расщелины нѐба) [30][31].…”

Section: заключениеunclassified

Epignatus of a Newborn: Postmortem Ct and Mri Imaging for Autopsy

Туманова¹,

Lyapin²,

Щеголев³

et al. 2017

Rejr

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“…Snijders et al [12] estimated a risk of 340 times higher for trisomy 13 or 18 in fetuses with exomphalos than in those without exomphalos. A small proportion of congenital teratomas is associated with chromosomal abnormalities and a rare case of an oral teratoma in a fetus with trisomy 13 was reported [13] . In our case the trisomy of chromosome 13 could be responsible for both the body wall defect and congenital germ cell tumor.…”

Section: Commentsmentioning

confidence: 99%

Rare Case of Exomphalos Complicated with Umbilical Cord Teratoma in a Fetus with Trisomy 13

et al. 2005

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An exomphalos containing unusual solid and cystic mass was diagnosed during a routine ultrasound examination in the 17th week of gestation. Further investigations were planned but the pregnancy was terminated. The fetopathological examination revealed an umbilical cord teratoma. Although this entity is very rare it should be emphasized as a possible differential diagnosis when cystic lesion of the cord is detected. Large teratomas associated with abdominal wall defect may have poor fetal outcome and can be associated with structural and chromosomal abnormalities. In our case trisomy 13 was diagnosed.

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Sonographic diagnosis of epignathus (oral teratoma), prosencephaly, meromelia and oligohydramnios in a fetus with trisomy 13

Cited by 30 publications

References 0 publications

Prenatal Diagnosis of an Epignathus Associated with a 49,XXXXY Karyotype – A Case Report

Prenatal Diagnosis of an Epignathus Associated with a 49,XXXXY Karyotype – A Case Report

Epignatus of a Newborn: Postmortem Ct and Mri Imaging for Autopsy

Rare Case of Exomphalos Complicated with Umbilical Cord Teratoma in a Fetus with Trisomy 13

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