Goldenhar syndrome is a rare congenital disorder and also known as oculo-auriculo-vertebral dysplasia. The malformation of the face, eye and ear were first recorded by the nineteenth-century German physician Carl Ferdinand von Arlt (1812-1887) but was first described by Dr. Maurice Goldenhar in 1952. The syndrome occurs randomly, with no apparent cause. Most cases of Goldenhar syndrome are not inherited, however few families showed inheritance pattern. The male to female ratio is 2:1 and its occurrence is estimated from 1 in every 3,000 to 1 in every 5,000 live births. The syndrome mostly involves face, ears, eyes and vertebrae and is characterized by a wide spectrum of symptoms and physical features that range from mild to severe and is often associated with difficult intubation due to characteristic asymmetrical malformations of the face. There are many factors that lead to the abnormal development of the facial tissues which may be environmental or due to certain medication taken during pregnancy. Usually children with Goldenhar Syndrome have normal life span.
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A female child of 10 years, reported in ophthalmic outpatient department of our hospital with history of diminution of vision and painless swelling of left eye since birth. On ophthalmic examination visual acuity in right eye was 6/6 but best corrected visual acuity in left eye was 6/60 which was not improved with refraction. There was inferolateral limbal dermoid of about 5x5 mm size with 30 to 35 degree divergent squint of left eye [Figure1]. Fundoscopic examination and intraocular tension were normal in both eyes with restricted extra ocular movements of left eye. The physical examination showed facial asymmetry due to under development of left maxilla with normally appeared mandible. Airway evaluation showed Mallampatti class II and restricted movements of head and neck, which suggested possibility of difficult laryngoscopy and intubation. On ENT examination, the girl had multiple pre auricular skin tags in front of left ear, lying in line joining tragus and angle of mouth [Figure2]. The external ears were normal in shape and size. She had no complaint of deafness. The cardiovascular and central nervous system examinations were normal with no other associated congenital anomaly. The X-ray cervical spine lateral view has shown fused bodies of third to fifth cervical vertebrae with loss of intervertebral disc [Figure3]. X-ray chest, skull and computed tomography of head were normal. Haemogram, bleeding time and clotting time were within normal limits.
Airway and Anesthetic Technique
In preanesthetic assessment, she was evaluated for airway examination by mouth opening- Mallampatti classification which was MP-II, thyromental distance, and neck movement. Nasal patency was checked for both nostrils. The fiberoptic intubation technique under sedation was selected for airway management during surgery. A written informed parental consent was taken after discussing airway problems and their management with parents and ophthalmic surgeon. Local anesthetic, lignocaine sensitivity test was done. The 'difficult airway cart' with percutaneous tracheostomy set, was kept ready.
The intravenous infusion of ringer lactate was started at 6 to 8 mL kg -1 and standard monitors for heart rate, systemic arterial blood pressure, pulse oximetry and oxygen saturation (SpO2), electrocardiography (ECG), capnography and temperature were attached. The topical anesthesia was achieved by nasal packing with lignocaine 4% and xylometazoline 0.1% nasal drops, instilled in both nostrils 15 minutes prior to procedure. The Pharynx was sprayed with 4 to 6 puffs of lignocaine 10% aerosol. She was premedicated with intravenous glycopyrrolate (.01mg kg-1), fentanyl (1μg kg-1) and midazolam (.05mg kg-1). After preoxygenation with 100% oxygen for three minutes, awake fiberoptic intubation (Pentax -PMS, FI 10P2, Pentex Corporation, Medical instrument division, Japan) was performed under sedation, by nasal route with 5.5 mm portex cuffed endotracheal tube. During procedure the sedation was supplemented with fentanyl in titrated doses. The correct positioning of tracheal tube was confirmed with capnograph and was firmly secured after confirming the equal bilateral air entry by auscultation. Anaesthesia was induced with intravenous propofol (1%) in a dose of 2 mg kg-1, sufficient to abolish the eye lash reflex and was maintained with vecuronium .08 mg kg-1, halothane 0.5-1% and nitrous oxide 60% in oxygen on controlled ventilation via pediatric Bain's circuit. The surgical procedure was smooth, uneventful and lasted for 60 minutes. Residual neuromuscular blockade was reversed with neostigmine 0.05mg kg-1 and glycopyrrolate, given in titrated doses. She was extubated, when fully awake and breathing spontaneously with adequate tidal volume. The post operative period was also uneventful.
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Goldenhar syndrome is a rare congenital disorder and consists of ocular, auricular and skeletal anomalies with variable presentation. Although, in most of cases, such malformations affect one side of the body (hemifacia microsomia) but in 10 to 33% of cases, it may be bilateral. Ocular abnormalities include epibulbar dermoids and lipodermoids, coloboma, microphthalmia, palpebral fissures, blepharophimosis, strabsmis, vision defects including diplopia of various degrees and/or other eye abnormalities, seen in 60% of cases. Amongst ocular features, epibulbar dermoids are the commonest (75%) and are classically located in inferio-temporal quadrant. Amongst auricular afflictions, preauricular skin tags and accessory are common. Hearing defect of various degrees from near normal to severe hearing loss (conductive type) may occur. Involvement of axial skeleton (vertebrae and ribs) has been observed in 24% of the patients. The spina bifida is the commonest and least severe of all anomalies. Craniofacial abnormalities may include malar hypoplasia, maxillary, mandibular and temporal hypoplasia, macrostomia, cleft lip and/ or palate. Many affected individuals may have additional skeletal, neurological, cardiac, pulmonary, renal, and/or gastrointestinal abnormalities including feeding difficulty.[2 to 4] Feingold and Baun listed criteria for Goldenhar syndrome, of which at least two are required for the diagnosis of the syndrome.
Genetic Profile-Goldenhar syndrome is caused by disruption of normal facial development which is formed between eighth and twelfth weeks of intrauterine gestational life of pregnancy. Its etiology may be environmental or due to certain medication taken during pregnancy. In some cases of positive family history, suggested autosomal dominant or recessive inheritance. There may be interaction of many genes possibly in combination with environmental factors (multifactorial inheritance).
Our patient showed inferolateral limbal dermoid of left eye with 30-35 degree divergent squint and restricted extra ocular movements on abduction, preauricular skin tags, maxillary hypoplasia of left side and fused bodies of third to fifth cervical vertebrae with loss of intervertebral discs, thus fulfilled requisite criteria (oculo-auriculo-vertebral spectrum) for diagnosis of Goldenhar syndrome [Figure1to 3].
The presence of mandibular abnormalities had 100% sensitivity and 96% specificity for predicting difficult laryngoscopy. As the number of associated craniofacial anomalies of Goldenhar syndrome increased, the chances of difficult intubation would also be increased. Sometimes even careful examination did not predict every case of difficult intubation. Her airway and anesthetic management was challenging as the preoperative assessment of her airway revealed the presence of maxillary hypoplasia, fused cervical vertebrae and limited head and neck movements with Mallampatti class II. Various anesthetic approaches for airway management were discussed.
Flexible fiberoptic intubation under local anesthesia with sedation is the technique of choice for management of the anticipated difficult airway with restricted mouth opening in the patient undergoing an elective procedure. It is generally regarded as a gold standard method for endotracheal intubation in patients with cervical spine instability or immobility.[8,9] Madan et al found that intravenous induction was preferable to the gaseous one. Other alternative method for such patient was lighted stylet guided intubation under general anesthesia. Tracheostomy should be performed only in emergency or when other options failed.
Treatment of Goldenhar Gorlin syndrome is usually confined to surgical intervention that may be necessary to allow the child to develop normally e.g. jaw distractions/bone grafts, ocular dermoid debulking, repairing cleft palate/lip, repairing heart malformation and spinal surgery.[11, 12] In our patient, excision of limbal dermoid of left eye was performed successfully under general anaesthesia. Surgery was smooth, uneventful and lasted for 60 minutes.
Goldenhar syndrome is rare congenital disorder of unknown etiology, associated with craniofacial vertebral abnormalities and characterized by a wide spectrum of physical features that vary in range and severity. No single airway test can provide a high index of sensitivity and specificity for prediction of difficult airway in patients of Goldenhar syndrome. The airway and anesthetic management for such patients depend on the type, extent and severity of craniofacial-vertebral anomalies, associated cardiovascular problems and nature of surgery. Awareness of this condition will help in diagnosing more of such cases.