Goldenhar Syndrome: A Report of Two Cases.

Sir,

Goldenhar syndrome is a rare, inherited disorder of disturbed blastogenesis having multifactorial etiopathogenesis. It is characterized by multiple anomalies including auricular appendices, malformed ears, and dermal epibulbar cysts. Keeping in view its systemic implications, an early diagnosis along with musculoskeletal and cardiovascular systemic examination is essential. Here, we report two cases of Goldenhar syndrome in whom multiple accessory tragi, unilateral ocular and auricular changes, and maxillary and mandibular hypoplasia with growth retardation and developmental delay were observed.

The first case was of a 6-year-old boy, born of nonconsanguineous marriage, who presented to our skin department with multiple accessory tragi, left bulbar dermoids, abnormal growth, and development since birth. On cutaneous examination, the patient had multiple bilateral skin-colored papules in the preauricular area along the line joining the tragus and angle of mouth, identified as accessory tragi [Figure 1a]. On ocular examination, soft, yellowish-brown nodules on the left bulbar conjunctiva and the limbus on the temporal aspect of the left eye were present, identified as dermoids [Figure 1b]. The patient also had kyphosis.

Figure 1

(a) Bilateral accessory tragic. (b) Dermoid and accessory tragi

The second case was a 1-year-old boy who presented with multiple accessory tragi, left bulbar dermoids, left coloboma, and maxillary and mandibular hypoplasia [Figure 2a and b].

Figure 2

(a) Left bulbar dermoid maxillary and mandibular hypoplasia. (b) Accessory tragus

Goldenhar syndrome is an autosomal dominant condition described by Maurice Goldenhar, a French ophthalmologist, in 1952.[1] Gorlin et al. named this syndrome as oculo-auriculo-vertebral dysplasia due to the presence of vertebral anomalies.[2]

The classic features of this syndrome include ocular changes such as microphthalmia, epibulbar dermoids, coloboma, and lipodermoids; aural features such as preauricular tragi, hearing loss, and microtia; and vertebral anomalies such as scoliosis, cervical fusion, and hemivertebrae.[34] About 85% of cases have unilateral abnormalities and 10%–33% are bilateral.[5] Ocular anomalies especially bilateral dermoids are seen in about 60% of cases, vertebral anomalies in 40% of the cases, and ear anomalies also in 40% of cases.[4] Other unusual features are macrophthalmia and hypertelorism associated with trisomy 22.[6] There is poor development of nostrils resulting in a “parrot-like” appearance.

The most common associated cardiovascular anomalies are Tetralogy of Fallot and ventricular septal defects.[3] Other associated findings are cleft lip and palate, macrostomia, micrognathia, webbing of the neck, short neck, tracheoesophageal fistula, abnormalities of sternocleidomastoid muscle, umbilical hernia, inguinal hernia, urologic anomalies, hypoplastic vagina, and anal anomalies.[7]

Successful treatment usually requires a multidisciplinary approach. Uncomplicated cases require cosmetic reconstruction surgeries of the external ear which can be done at the age of 6–8 years. Jaw reconstruction surgeries are done in early teens. Epibulbar dermoids are surgically resected.[4] In uncomplicated cases, without any systemic associations, prognosis is good.

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Conflicts of interest

There are no conflicts of interest.