ABSTRACT
Franceschetti-Goldenhar syndrome or Goldenhar syndrome, also known as facio-auricular-spectrum (FAV), first and second branchial arch syndrome, or Oculo-Auriculo-Vertebral (OAV) spectrum is a rare congenital malformation which encompasses various morphological and functional abnormalities. The incidence of Goldenhar syndrome has been reported between 1:3500 to 1:5600 children, with a male: female ratio of 3:23. The incidence is higher, about 1 in 1000 children with congenital deafness. The exact etiology is not known. However, it is possible that abnormal embryonic vascular supply, disrupted mesodermal migration or some other factors leads to defective formation of the brachial and vertebral system. Most of the cases have been sporadic. Autosomal dominant, autosomal recessive and multifactorial modes of inheritance have also been suggested. Chromosomal studies have not revealed any abnormality. Authors report a case of a neonate with hemifacial microsomia, bilateral cleft lip and cleft palate, right deformed pinna, right facial palsy, single umbilical artery and congenital heart disease.
ABSTRACT
To report an unusual variant of Goldenhar syndrome We reviewed a 7 year old boy attending our OPD with left upper eyelid coloboma and multiple congenital deformities including auricular, facial and vertebral abnormalities like microtia, hemifacialmicrosomia, cleft palate, dental abnormalities, kyphoscoliosis and tilted optic disc. He underwent radiological imaging and thorough ocular & systemic examination which were suggestive of Goldenhar syndrome. The most common ocular finding of Goldenhar syndrome, also known as oculo-auriculo-vertebral spectrum, is epibulbar dermoid, which was absent in our case, instead there was upper-eyelid coloboma and tilted optic disc. However other facial, auricular and skeletal deformities were in concordance with the spectrum of Goldenhar Syndrome. Goldenhar syndrome consists of a large spectrum of congenital abnormalities and patients might not present with the most diagnostic ocular features. Hence, its diagnosis and treatment requires a multidisciplinary approach.
ABSTRACT
We present a patient with various features of oculo-auriculo-vertebral syndrome (OAVS), also known as Goldenhar's syndrome. In general, multiple accessory tragi in a linear distribution from the preauricular skin to the mandible or to the lateral neck suggest a diagnosis of OAVS. However, in most cases, an accessory tragus is an isolated developmental defect without an associated congenital syndrome. A female infant presented with a solitary, skin colored, sessile papule on the right lower cheek, microtia, and ear deformity since birth. A biopsy specimen showed numerous irregularly spaced hair follicles with a prominent connective tissue framework in the subcutaneous fat, but without central cartilage. Multiple congenital anomalies, including ocular lipodermoid, sensorineural hearing loss, and vertebral deformity, were found on further evaluation.