Giant epignathus with midline mandibular cleft: Insights in embryology and management

Abstract

A congenital teratoid tumor arising and protruding through the mouth is classified as epignathus or fetus in fetu. On review of literature, we found various reports of midline mandibular and lower lip cleft associated with flexion contracture of neck, midline cervical cord, but there is only one report of association with midline dermoid. We present an unusual case of midline cleft of mandible with an epignathus. A 2.3-kg male child, delivered transvaginally in the 38th gestational week, was referred to us for management of a large irregular growth hanging outside the mouth. On examination, he had a wide median cleft of the mandible with tongue adherent to the “V”-shaped defect in the area of lower lip. A midline irregular mass of size 12 × 8 × 5 cm with variegated consistency was arising in the midline from the floor of the mouth between the tongue and lower lip. X-ray and computed tomography scan showed a rounded soft tissue mass arising from the alveolus with multiple calcifications within it along with a large triangular calcification and absence of hyoid bone. The mass was excised by mobilizing the tip of tongue. Staged repair was planned for the defect in the mandible. Unfortunately, the baby succumbed postoperatively to complex congenital heart disease. Histopathology was suggestive of epignathus. We discuss hereby the embryology and current management strategies of the problem.

Neonatal epignathus in the oral and pharyngeal regions: A case report

“…Surgical resection is the only effective way to treat teratomas . The published report of clinical findings in patients with giant epignathus is shown in Table . In the present case, although partial resection of the tumor by pediatric surgeons was made as a first step, this was unavoidable because the tumor was oppressing her face.…”

“…8 The published report of clinical findings in patients with giant epignathus is shown in Table 1. 2,3,6,11,[13][14][15][16][17][18][19][20][21][22][23][24][25][26][27][28] In the present case, although partial resection of the tumor by pediatric surgeons was made as a first step, this was unavoidable because the tumor was oppressing her face. It had been difficult to approach the tumor in the pharyngeal region before resection of the tumor protruding from the left nostril.…”

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

“…According to both interpretations, CTS emerges as a discrete monotopic field defect of the cephalic midline. The observation of additional thoracic and abdominal blastogenetic malformations in 13 (26.5%) instances (Brodsky, ; Clausnitzer, ; Hori, ; Lu et al, ; Slavotinek et al, ; Noguchi et al, ; Jank et al, ; Bonet et al, ; Manjila et al, ; Prakash et al, ; Ginat et al, ; Maeda et al, ; present patient) indicates the possibility of a polytopic presentation likely related to the timing, intensity, and/or spatial extension of the dysembryogenic insult.…”

“…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.…”

Fetal Oropharyngeal Teratoma: A Case Report

“…The tumor typically arises from the palato-pharyngeal region around the basisphenoid (Rathke's pouch). With progressive growth it fills the buccal cavity and finally protrudes out of the mouth [4]. Depending on histopathology, teratomas can be classified as immature or malignant and mature or benign.…”