“…11 Sporadic chromosomal changes had been reported, but usually, it has not reported being associated with epignathus. 6,11 Chromosomal analysis of this case revealed a normal female karyotype.…”
Section: Discussionmentioning
confidence: 78%
“…7 Thus, early diagnosis is imperative, especially in the neonatal period, which facilitates establishing an early treatment plan to prevent serious and sometimes fatal co-complications. 6 In this study, we present a rare case of congenital epignathus arising from the hard palate with concomitant duplication of the mandible in a newborn girl with a successful outcome.…”
Section: Introductionmentioning
confidence: 96%
“…Epignathus is extremely rare and its incidence varies between 1:35,000 and 1:200,000 live births with a female predominance (3:1) 5. The recognition of its etiology is still uncertain; however, several cases of epignathus have been linked to chromosomal abnormalities such as trisomy 13, ring X-chromosome, mosaicism with inactive ring X-chromosome, gonosomal pentasomy 49, gene mutations, or abnormalities in early embryonic development 6…”
mentioning
confidence: 99%
“…This tumor may be small, interfering only with feeding, or may reach a large size, causing obstruction of the upper airways and consequent death of the newborn 7. Thus, early diagnosis is imperative, especially in the neonatal period, which facilitates establishing an early treatment plan to prevent serious and sometimes fatal co-complications 6…”
Epignathus is a rare congenital oropharyngeal teratoma that arises from the oropharynx, especially the sphenoid, palatine, and ethmoid bones. Teratomas are benign tumors containing cells from ectodermal, mesodermal, and endodermal layers. The incidence of epignathus is between 1:35,000 and 1:200,000 live births with a female predominance. We reported an uncommon case of epignathus in a female newborn baby with an ill-defined oral mass protruding through a cleft in the hard palate. Computed tomography scan showed a contrast-enhanced solid mass with areas of calcification simulating a unique case of maxilla duplication. Surgery was performed, the mass was excised successfully, and microscopic analysis confirmed the diagnosis of mature teratoma. The patient evolved with good general health and showed no clinical signs of recurrence. Although epignathus is a rare condition, it should be diagnosed in the fetus as early as possible, especially to avoid fatal airway obstruction. In such cases, the treatment option is exclusively surgical, and complete resection is curative in most cases during the early neonatal period.
“…11 Sporadic chromosomal changes had been reported, but usually, it has not reported being associated with epignathus. 6,11 Chromosomal analysis of this case revealed a normal female karyotype.…”
Section: Discussionmentioning
confidence: 78%
“…7 Thus, early diagnosis is imperative, especially in the neonatal period, which facilitates establishing an early treatment plan to prevent serious and sometimes fatal co-complications. 6 In this study, we present a rare case of congenital epignathus arising from the hard palate with concomitant duplication of the mandible in a newborn girl with a successful outcome.…”
Section: Introductionmentioning
confidence: 96%
“…Epignathus is extremely rare and its incidence varies between 1:35,000 and 1:200,000 live births with a female predominance (3:1) 5. The recognition of its etiology is still uncertain; however, several cases of epignathus have been linked to chromosomal abnormalities such as trisomy 13, ring X-chromosome, mosaicism with inactive ring X-chromosome, gonosomal pentasomy 49, gene mutations, or abnormalities in early embryonic development 6…”
mentioning
confidence: 99%
“…This tumor may be small, interfering only with feeding, or may reach a large size, causing obstruction of the upper airways and consequent death of the newborn 7. Thus, early diagnosis is imperative, especially in the neonatal period, which facilitates establishing an early treatment plan to prevent serious and sometimes fatal co-complications 6…”
Epignathus is a rare congenital oropharyngeal teratoma that arises from the oropharynx, especially the sphenoid, palatine, and ethmoid bones. Teratomas are benign tumors containing cells from ectodermal, mesodermal, and endodermal layers. The incidence of epignathus is between 1:35,000 and 1:200,000 live births with a female predominance. We reported an uncommon case of epignathus in a female newborn baby with an ill-defined oral mass protruding through a cleft in the hard palate. Computed tomography scan showed a contrast-enhanced solid mass with areas of calcification simulating a unique case of maxilla duplication. Surgery was performed, the mass was excised successfully, and microscopic analysis confirmed the diagnosis of mature teratoma. The patient evolved with good general health and showed no clinical signs of recurrence. Although epignathus is a rare condition, it should be diagnosed in the fetus as early as possible, especially to avoid fatal airway obstruction. In such cases, the treatment option is exclusively surgical, and complete resection is curative in most cases during the early neonatal period.
“…3D ultrasound can give us further information about head and neck masses as successful as MRI. In case of very large tumors, multidisciplinary approach is needed for a safe labor during the delivery [ 8 ]. This is a part of OPPS (operation on placental support), which includes the endotracheal intubation after fetal head and shoulder come out of the uterus while the rest of the baby is still inside the uterus and the uterus is kept relaxed by specific agents such as Terbutaline or nitroglycerin [ 3 ].…”
Ultrasound (USG) and magnetic resonance imaging (MRI) can be used to detect and evaluate the face and neck tumors during the in-utero period. We reported and discussed an oral mass which was diagnosed incidentally at mid-trimester exam and managed successfully.
Epignathus is an extremely rare congenital oropharyngeal teratoma. Here, we report a case of epignathus without intracranial extension in a fetus. The mass was first found by ultrasonography at 22 gestational weeks. Serial ultrasound examinations and magnetic resonance imaging confirmed that the fetus had neither central nervous system involvement nor abnormal nose or tooth. The baby was delivered at 37 weeks and six days of gestation via cesarean section set up for ex-utero intrapartum treatment. The postnatal pathologic examination confirmed the presence of mature tissues predominantly containing ectopic central nervous tissue, osseous tissue, and bronchial mucosal tissue. Most cases of epignathus are associated with malformation and death. Ultrasound and magnetic resonance imaging prenatal assessments are very important to facilitate counseling and understand prognosis. In conclusion, the ex-utero intrapartum treatment procedure is a good approach to improve the survival of infants with epignathus.
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