22q11.2 duplication syndrome (OMIM #608363) was first described by Edelmann in 1999 and later by other groups. The syndrome presented with clinically normal to varied spectrum of multisystem involvement. The 22q11.2 duplication syndrome in comparison to the 22q11.2 micro-deletion is a relatively rare condition which inherited autosomal dominantly or may occur as de novo condition. This article ...

PURPOSE To report unusual ocular manifestations of branchio-oculo-facial syndrome (BOFS) caused by a novel mutation in activating enhancer binding protein 2 alpha (TFAP2A). METHODS Full ophthalmological evaluation and direct sequencing of TFAP2A. RESULTS A 10-year-old girl with unusual ocular manifestations of BOFS such as elliptical shaped microcornea and a novel de novo TFAP2A mutation wa...

We present here an account of two infant sisters suffering from a congenital and, probably, inherited disease, the chief features of which were epilepsy, cataracts, renal tubular necrosis and an encephalopathy comprising micrencephaly, lack of myelination and cerebellar dysplasia. The condition resembles the so-called Marinesco-Sjogren syndrome and also the oculo-cerebro-renal (Lowe's) syndrome...

*Senior Resident, **Associate Professor, ***Professor, Department of Ophthalmology, T.N.M.C. and B.Y.L. Nair Hospital, Mumbai. Abstract Goldenhar syndrome is a morphogenetic anomaly involving the 1st and 2nd branchial arches. It is also known as the oculo-auriculo-vertebral syndrome because of the association of eye anomalies with or without vertebral and ear anomalies. It has been also Goldenh...

We report on a family with early-onset sensorineural hearing loss, abnormal retinal pigment epithelium granularity, accumulation of creamy-white lesions at the level of the retinal pigment epithelium particularly superior to the arcade, and selective discoloration (brown) of molars or canine deciduous teeth that follows an apparent autosomal recessive inheritance pattern. This appears to be a n...