Goldenhar Syndrome associated with Vestibular Fistula and Esophageal Atresia – A Rare Association

Goldenhar syndrome is associated with various other congenital anomalies of gastro-intestinal tract, heart, kidney and genitourinary system. We report a rare association of Goldenhar syndrome with vestibular fistula and esophageal atresia.


INTRODUCTION
Goldenhar syndrome, also known as oculoauriculo-vertebral syndrome, is a rare congenital anomaly with an incidence of 1:3500 to 1:5600 live births.[1] It is commoner among males with male female ratio reported as 3:2.We report a Goldenhar syndrome in a female child associated with vestibular fistula and esophageal atresia with tracheaesophageal fistula which is a very rare entity.

CASE REPORT
A female neonate born prematurely at 32-week gestational age to a P9G9 mother, weighing 1700g weight was admitted to our Department.Seven of her siblings had expired previously owing to prematurity and low birth weight.The chief complaints were excessive frothy secretions from mouth, abdominal distension, respiratory distress, absent anal opening, and passing meconium from vaginal vestibule.Facial anomalies on examination included right lateral facial cleft, two pre-auricular skin tags on the right side, one skin tag over the right cheek and two pre-auricular skin tags on the left side [Fig.1].Buttocks were flat and anal opening was absent; the meconium was coming out from vaginal vestibule.There was copious oral secretion, so oral suction was done.The diagnosis of esophageal atresia and trachea-esophageal fistula was confirmed by the non-negotiation of the red rubber catheter in to the stomach and gas-filled bowel on babygram (Fig. 2).

DISCUSSION
Goldenhar syndrome is a birth defect resulting from the mal-development of the first two branchial arches, with incomplete development of the ear, nose, soft palate, lip and mandible [2][3][4].The phenotype is highly variable.The classic triad is mandibular hypoplasia resulting in facial asymmetry, ear and eye malformation and vertebral anomalies.
Ingestion of drugs such as thalidomide, retinoic acid, tamoxifen and cocaine by pregnant mothers may be related to the development of Goldenhar syndrome.[6] Maternal diabetes, rubella and influenza have also been suggested as etiological factors.
[7] CMV and rubella infections may have been the etiological factor in the index case reported here.
Gorlin and Pindborg suggested that during embryological development, mesoblasts become affected which leads to abnormal development of branchial and vertebral system causing Goldenhar syndrome.
[3] Tracheo-esophageal fistula, anomalies of the urogenital system, uretropelvic junction obstruction and imperforate anus with or without rectovaginal fistula also associated with this syndrome.[8] Consent: Authors have submitted signed consent form from legal guardian of the patient and available with editorial office.
Authors' contribution: All the authors equally contributed in concept, design, drafting of manuscript, and approved final version of the manuscript.

Figure 1 :
Figure 1: showed right lateral facial cleft with preauricular skin tag.There were multiple cervical and vertebral anomalies and absence of multiple ribs on the right side.TORCH profiles of both the mother and the neonate were positive for cytomegalovirus (CMV) and rubella virus.She expired on second day of life before any

Figure 2 :
Figure 2: showed cervical and thoracic vertebral anomaly, red rubber catheter could not negotiated in oesophagus.