We describe additional phenotypic features in a boy and his mother. Both manifested the phenotypic/genotypic correlation of oto-palato-digital syndrome type II. The mother's radiographs showed wormian bones of the skull, and paranasal bossing, her feet showed bilateral fusion of the cuboid with the lateral cuneiform bone with subsequent development of metatarsus varus associated with dysplastic...

BACKGROUND AND PURPOSE Cranial nerve abnormalities might be observed in hemifacial microsomia and microtia (oculo-auriculo-vertebral spectrum), but the rate, features, and relationship with functional impairment or phenotype severity have not yet been defined. This study aimed at investigating absence/asymmetry, abnormal origin, morphology and course of cranial nerves, and presence/asymmetry of...

Goldenhar's syndrome (Goldenhar, I952) consists of epibulbar dermoids or lipodermoids, auricular appendages, pretragal blind fistulas, and vertebral anomalies. A number of other deformities associated with this condition have been summarized by Bowen, Collum, and Rees (I97I). Our case is presented because of the presence of an aberrant salivary gland in the nose. This complication has not been ...

The oto-palato-digital (OPD) syndrome is a rare X linked disorder characterized by generalized skeletal dysplasia. A case with major features of mild conductive hearing loss, with hyperteleorism, cleft soft palate, hand and foot abnormalities is presented. The evaluation of the auditory functions of case was performed by objective and subjective hearing tests with radiological findings of tempo...

Introduction Oculo-auriculo-vertebral spectrum, also referred to as Goldenhar syndrome, is a condition characterized by alterations involving the development of the structures of the first and second branchial arches. The abnormalities primarily affect the face, the eyes, the spine, and the ears, and the auricular abnormalities are associated with possible hearing loss. Objective To analyze the...

Norrie's disease, a congenital progressive oculo-acoustico-cerebral degenerative condition, is a sex linked recessive disorder. Previously described as atrophia oculi congeneti, it is associated with bilateral pseudotumour of the retina, lens, and corneal opacities, and phthisis bulbi. Some patients develop progressive deterioration of mental function and hearing. We report a Sri Lankan family ...