optic nerve hypoplasia/hearing loss

Co-incidence of sensorineural hearing loss and ophthalmic abnormalities has a tremendous influence on development of children. This study was done to determine the nature and prevalence of ophthalmic disturbances in children with congenital sensorineural hearing loss. In a descriptive

We report a case of Donnai-Barrow syndrome in a 2-year-old boy who presented with exotropia and prominent eyes since birth. Ocular findings included high myopia, persistent pupillary membrane, and optic nerve hypoplasia. Facial manifestations included broad nasal bridge, hypertelorism, and

Congenital clubfoot is a heterogeneous disorder that can result in functional disability, deformity, and pain if left untreated. Although the etiology is considered multifactorial in the majority of cases, a 17q23.1–q23.2 duplication has been reported in families with congenital clubfoot

Partial trisomies have often been reported secondary to inversion mutations. These occurrences are most frequently associated with pericentric inversions. In this report, we describe the first documented case of partial trisomy 13 secondary to a parental paracentric inversion, in this case a

Pax gene haploinsufficiency causes a variety of congenital defects. Renal-coloboma syndrome, resulting from mutations in Pax2, is characterized by kidney hypoplasia, optic nerve malformation, and hearing loss. Although this underscores the importance of Pax gene dosage in normal development, how

CHARGE association includes patients with at least four features prefixed by the letters of the mnemonic: Coloboma, Heart defects, Atresia of the choanae, Retarded growth and development, Genital hypoplasia, Ear anomalies and/or hearing loss. Many also have facial palsy. We report a series