A case of an epignathus with intracranial extension appearing as a persistently open mouth at 16 weeks and subsequently diagnosed at 20 weeks of gestation

Abstract

We report a rare case regarding an oral mass (epignathus) with intracranial extension originally noted antenatally at 16 weeks´ gestation. Early second trimester diagnosis of small potentially serious lesion is difficult and needs expert 2D and perhaps 3D sonographic re-evaluation over time. Postmortem MRI and pathologic examination of the fetus confirmed an oral teratoma with bilateral ventricular dilatation, corpus callosum agenesis, and a neuroepithelial intracranial cyst. The relevant literature regarding this anomaly is reviewed.

Prenatal ultrasound and magnetic resonance imaging findings of a hypovascular epignathus with a favorable prognosis

“…Hypervascularity has been noted in epignathus teratomas that grew rapidly [3,5]. In contrast, color Doppler ultrasound showed a hypovascular tumor in our case (Fig.…”

“…Teratomas are tumors derived from pluripotent cells and composed of elements of different types of tissue, from one or more of the three germ cell layers [3]. Epignathus is an extremely rare form of a teratoma that arises from the base of the skull, usually the hard palate, or the mandible.…”

“…Epignathus occurs more frequently in females than in males with a ratio of 3:1 [3]. Approximately 6 % of patients with this tumor have associated anomalies including other facial abnormalities, branchial cleft cysts, and congenital heart diseases [4].…”

Common Oral Lesions and Their Treatment in Newborns

“…İnsidansı ortalama %0,0005 olarak bildirilmiştir ve kadınlarda üç kat daha fazla görülür. 49 Epignatus, ağız boşluğu boyunca bir çıkıntı yapabilir, intrauterin dönemde ultrasonografi ve manyetik rezonans görüntüleme ile fark edilebilir. 50 Beslenme zorluğu, havayolu tıkanıklığı, yarık damak, bifid dil ve fetal ölüme sebep olabilir.…”

Oropharyngeal teratoma, oral duplication, cervical diplomyelia and anencephaly in a 22‐week fetus: A review of the craniofacial teratoma syndrome

“…We identified a total of 48 additional cases in 39 papers from 1931 to 2013 (Feller, ; Brodsky, ; Clausnitzer, ; Morton, ; Rintala and Ranta, ; Bale and Reye, ; Hori, ; Wittkampf and van Limbourgh, ; Trotman and McNamara, ; Kollias et al, ; Shah et al, ; Hamon‐Kérautret, ; Lu et al, ; Vandenhaute et al, ; Uchino et al, ; Shroff et al, ; Spencer, ; Haghighi et al, ; Mutlu et al,2004; Goldstein and Drugan, ; Huisman et al, ; Slavotinek et al, ; Noguchi et al, ; Stewart et al, ; Jank et al, ; Bhattacharya et al, ; Madhusudhan and Kandpal, ; Joethy et al, ; Calda et al, ; Chariker et al, ; Kumar et al, ; Bonet et al, ; Manjila et al, ; Prakash et al, ; Rabelink et al, ; Ginat et al, ; Maeda et al, ; Shen et al, ; Tsai et al, ). All cases were sporadic.…”