optic nerve hypoplasia/gluhoća

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Ophthalmic disturbances in children with sensorineural hearing loss.

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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

Persistent pupillary membrane, strabismus, and optic nerve hypoplasia in Donnai-Barrow syndrome.

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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

Familial microduplication of 17q23.1–q23.2 involving TBX4 is associated with congenital clubfoot and reduced penetrance in females.

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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

Novel case of paternal paracentric inversion causing partial trisomy 13 and review of the literature.

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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

Graded levels of Pax2a and Pax8 regulate cell differentiation during sensory placode formation.

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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

The eye in the CHARGE association.

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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

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