piebaldism/gluhost

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Congenital Sensorineural Hearing Loss and Inborn Pigmentary Disorders: First Report of Multilocus Syndrome in Piebaldism.

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Prijava / prijava

Congenital sensorineural hearing loss may occur in association with inborn pigmentary defects of the iris, hair, and skin. These conditions, named auditory-pigmentary disorders (APDs), represent extremely heterogeneous hereditary diseases, including Waardenburg syndromes, oculocutaneous albinism,

Hearing impairment and pigmentary disturbance.

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Prijava / prijava

Hearing impairment is a variable manifestation of several heritable conditions in which pigmentation of the skin or eyes is abnormal. Some of these disorders are well recognized although uncommon, while others are virtually private syndromes. Practical issues concerning the major conditions of this

[Waardenburg syndrome type I: case report].

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Prijava / prijava

Waardenburg syndrome (WS) type I is a non-progressive auditory-pigmentary disorder comprising congenital sensorineural hearing loss and pigmentary disturbances of the iris, hair, and skin, along with dystopia canthorum (lateral displacement of the inner canthi). Affected individuals may have higher

[Unilateral sensineural deafness associated with mutations in the PAX3-gene in Waardenburg syndrome type I].

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Prijava / prijava

Waardenburg syndrome (WS) type 1 occurs due to a mutation in the PAX3-gene on the long arm of chromosome 2. It is an autosomal dominant mutation with highly variable expression and high penetrance. Symptoms include the absence of melanocytes in the skin, hair, eyes and cochlea due to an early

Molecular heterogeneity in two families with auditory pigmentary syndromes: the role of neuroimaging and genetic analysis in deafness.

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Prijava / prijava

We report two cases in which the probands presented with deafness and a family history of a dominantly inherited auditory pigmentary syndrome, yet the cause of deafness in each proband was not associated with the pigmentary abnormalities but was a result of mutations in SLC26A4, the gene mutated in

Identification of a novel point mutation of mouse proto-oncogene c-kit through N-ethyl-N-nitrosourea mutagenesis.

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Prijava / prijava

Manipulation of the mouse genome has emerged as an important approach for studying gene function and establishing human disease models. In this study, the mouse mutants were generated through N-ethyl-N-nitrosourea (ENU)-induced mutagenesis in C57BL/6J mice. The screening for dominant mutations

Anaesthesia Management in a Patient with Waardenburg Syndrome and Review of the Literature.

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Prijava / prijava

Waardenburg syndrome is a rare autosomal dominant disease that may cause hearing loss, pigmentary abnormalities, neurocristopathy and partial albinism. Incidence is estimated as 2%-3% among the cases of congenital deafness and 1/42,000 of the general population. Children with Waardenburg syndrome

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