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Article

X-linked Malformation Deafness: Neurodevelopmental Symptoms Are Common in Children With IP3 Malformation and Mutation in POU3F4.

Ear and hearing - 1 Jan 2000

Smeds Henrik, Wales Jeremy, Karltorp Eva, Anderlid Britt-Marie, Henricson Cecilia, Asp Filip, Anmyr Lena, Lagerstedt-Robinson Kristina, Löfkvist Ulrika

Abstract excerpt

OBJECTIVE: Incomplete partition type 3 (IP3) malformation deafness is a rare hereditary cause of congenital or rapid progressive hearing loss. The children present with a severe to profound mixed hearing loss and temporal bone imaging show a typical inner ear malformation classified as IP3. Cochlear implantation is one option of hearing restoration in severe cases. Little is known about other specific...

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Identifiers

PMID: 34133399
DOI: 10.1097/AUD.0000000000001073
PMCID: PMC8694264

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X-linked Malformation Deafness: Neurodevelopmental Symptoms Are Common in Children With IP3 Malformation and Mutation in POU3F4.PMID 34133399Read ↗

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X-linked Gusher Disease DFNX2 in Children, a Rare Inner Ear Dysplasia with Conductive Hearing LossSemantic proximity Read ↗

Cochlear implantation in children with congenital X-linked deafness due to novel mutations in POU3F4 gene.Semantic proximity Read ↗

A New Pathogenic Variant in POU3F4 Causing Deafness Due to an Incomplete Partition of the Cochlea Paved the Way for Innovative Surgery.Semantic proximity Read ↗

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