|Year : 1996 | Volume
| Issue : 1 | Page : 42-44
Goldenhar syndrome with multiple additional anomalies
SG Jaison, Nitin Batra
Department of Ophthalmology, Christian Medical College & Hospital, Ludhiana, India
S G Jaison
S.G.Jaison, Christian Medical College & Hospital, Ludhiana, Punjab 141 008
Source of Support: None, Conflict of Interest: None
|How to cite this article:|
Jaison S G, Batra N. Goldenhar syndrome with multiple additional anomalies. Indian J Ophthalmol 1996;44:42-4
Goldenhar syndrome (Oculo - auriculo - vertebral dysplasia) is a rare syndrome complex of structures developed from the first and second branchial arches during blastogenesis. This syndrome consists of epibulbar dermoids, dacryocystitis, auricular abnormalities, preauricular appendages, preauricular fistulas, hypoplasia of the malar bones, mandible and zygomatic arch. Some associations recorded in the literature are macrostomia, micrognathia, high vaulted cleft palate, bifid tongue, malocclusion and other dental abnormalities. Involvement of the axial skeleton (vertebrae and ribs) has been observed in 24% of the patients in the largest series reported by Rollnick et al.Cardiac and genitourninary abnormalities have also been documented. Facial palsy in Goldenhar syndrome is a very rare association. A case of Goldenhar Syndrome, with association of anophthalmos and calcification of falx cerebri is also reported.
The occurrence of Goldenhar syndrome is sporadic and no mode of inheritance has been established. However, Tsai and Tsai have reported this syndrome in three consecutive generations of a family. We, herein, present additional abnormalities in a patient with Goldenhar syndrome.
| Case report|| |
A 14 month old male baby presented with constant watering and mucopurulent discharge from the left eye. The parents had also noticed a mass in the left eye and facial deformity since birth.
The child was born to a young healthy mother who had a full term normal delivery. The antenatal period was un-eventful. The nen-consanguinous parents belonged to low socio-economic background. There was no family history of facial or other congenital anomalies.
On examination the child had left sided dacryocystitis, solid limbal dermoid at the inferotemporal region, coloboma of the outer 1/3 rd of the upper lid [Figure - 1][Figure - 2]. There was lagophthalmos due to left sided Lower Motor Neuron (LMN) type of facial palsy. However, there was no exposure keratopathy. Corneal sensation and tear secretion were normal. No other abnormality was detected in the anterior segment. Visual axes, ocular motility and fundus examination were normal.
The right auricle was normal in appearance. However, there were three preauricular appendages [Figure - 3]. Left auricle and external auditory meatus were absent. However there was a very rudimentary structure which was placed antero inferiorly. On the left side of the face an area which corresponds to the zygomatic bone appeared grossly depressed [Figure - 2]. On palpation bony defect was felt in this area which was confirmed radiologically.
There was marked frontal bossing. The right side of the face was well developed whereas the left side of the face appeared flattened. There was left malar hypoplasia and microganthia [Figure - 1].
Roentgenographic studies revealed mandibular hypoplasia, absence of left zygomatic arch and fusion of the posterior elements of the cervical vertebrae C2-C4.
The child was found to have bilateral undescended testes which were palpable in the inguinal canal. There was no cardiac, renal or oral abnormalities. Examination of hands and feet also revealed no abnormalities.
The dacryocystitis was managed conservatively and the limbal dermoid was surgically excised and confirmed histopathologically.
| Disscussion|| |
To the best of our knowledge, in Goldenhar syndrome total absence of ear (anotia) and bilateral undescended testes have not been reported so far. Facial palsy in this syndrome is also a rare association.
This case of Goldenhar syndrome is being reported for the unusual additional anomalies which have not been documented in literature so far.
| References|| |
Jones KL. Smith's Recognizable Patterns of Human Malformation. 4th ed. Philadelphia, WB Saunders Co, 1988, pp. 584
Rodriguez JI, Palacios J, Lapunzina P. Severe axial anomalies in the Oculo-Auriclo-Vertebral (Goldenhar) complex. Am J Med Genet 47:69-74, 1993.
Rollnick BR, Kaye CI, Nagatoshi K, et al. Oculoauriculovertebral dysplasia and variants: Pheno typic characteristics of 294 patients. Am J Med Genet 26:361-375, 1987.
Morrison PJ, Mulholland HC, Craig BG, et al. Cardio vascular abnormalities in the oculo-auriculo-vertebral spectrum (Goldenhar syndrome). Am J Med Genet 44:425-428, 1992.
Ritchey ML, Norbeck J, Huang et al. Urologic manifestations of Goldenhar syndrome. Urology 43:88-91, 1994.
Grundfast KM, Guarisco JL, Thomsen JR, et al. Diverse etiologies of facial paralysis in children. Int J Pediatr Otorhinolaryngol 19:223-239, 1990.
Vatwani V, Verma N, Palta SC, et al. Rare associations with Goldehar Syndrome. Indian Pediatr 31:72-73, 1994.
Tsai FJ, Tsai CH. Autosomal dominant inherited oculo-auriculo-vertebral spectrum: report of one family. Acta Paediatr Sin 34:27-31, 1993.
[Figure - 1], [Figure - 2], [Figure - 3]