Phenotypic Analyses and Mutation Screening of the SLC26A4 and FOXI1 Genes in 101 Taiwanese Families with Bilateral Nonsyndromic Enlarged Vestibular Aqueduct (DFNB4) or Pendred Syndrome

2009 ◽  
Vol 15 (1) ◽  
pp. 57-66 ◽  
Author(s):  
Chen-Chi Wu ◽  
Ying-Chang Lu ◽  
Pei-Jer Chen ◽  
Po-Lin Yeh ◽  
Yi-Nin Su ◽  
...  
Keyword(s):  
Mutation Screening ◽  
Pendred Syndrome ◽  
Enlarged Vestibular Aqueduct ◽  
Vestibular Aqueduct

Receptive language acquisition in a pediatric population with Pendred syndrome and non-syndromic enlarged vestibular aqueduct

2019 ◽  
Vol 140 (1) ◽  
pp. 46-50 ◽  
Author(s):  
Kristianna Mey ◽  
Lone Percy-Smith ◽  
Maria Hallstrøm ◽  
Matilde Sandvej ◽  
Per Cayé-Thomasen
Keyword(s):  
Language Acquisition ◽  
Pediatric Population ◽  
Receptive Language ◽  
Pendred Syndrome ◽  
Enlarged Vestibular Aqueduct ◽  
Vestibular Aqueduct

The Natural History of Hearing Loss in Pendred Syndrome and Non-Syndromic Enlarged Vestibular Aqueduct

2019 ◽  
Vol 40 (3) ◽  
pp. e178-e185 ◽  
Author(s):  
Kristianna Mey ◽  
Michael Bille ◽  
Stig Hebbelstrup Rye Rasmussen ◽  
Lisbeth Tranebjærg ◽  
Per Cayé-Thomasen
Keyword(s):  
Hearing Loss ◽  
Natural History ◽  
Pendred Syndrome ◽  
Enlarged Vestibular Aqueduct ◽  
Vestibular Aqueduct ◽  
History Of

Blended Phenotype of Pelger-Huet Anomaly with Osteochondroma and Autosomal Recessive Deafness with Enlarged Vestibular Aqueduct

2022 ◽  
pp. 1-6
Author(s):  
Tayfun Cinleti ◽  
Ceren Yılmaz Uzman ◽  
Şefika Akyol ◽  
Özlem Tüfekçi ◽  
Murat Derya Erçal ◽  
...  
Keyword(s):  
Autosomal Recessive ◽  
Pathogenic Variant ◽  
Nuclear Chromatin ◽  
Pendred Syndrome ◽  
Enlarged Vestibular Aqueduct ◽  
Skeletal Abnormalities ◽  
Vestibular Aqueduct ◽  
Phenotypic Spectrum ◽  
Molecular Studies ◽  
Patient Will

Pelger-Huet anomaly (PHA) is a benign hematological anomaly that is characterized by impaired lobulation of neutrophils with a coarse nuclear chromatin. Skeletal abnormalities may accompany this anomaly. Autosomal recessive deafness-4 (DFNB4) with enlarged vestibular aqueduct (EVA) comprises a phenotypic spectrum of sensorineural hearing loss (SNHL). We report a case with SNHL, multiple skeletal anomalies including osteochondroma, developmental delay, and PHA. Molecular studies revealed a heterozygous pathogenic variant in the <i>LBR</i> gene and a homozygous likely pathogenic variant in the <i>SLC26A4</i> gene. Due to these 2 variants, he was diagnosed with PHA and DFNB4 with EVA. If goiter develops, DFNB4 with EVA is named Pendred syndrome (PDS), so the patient will be followed up for this condition, and in the current literature, there is no case with PDS and PHA co-existence either. PHA may be accompanied by multiple skeletal abnormalities. In our case, there is also concomitance with osteochondroma. Although these are independent and distinct diagnoses, we present this case due to the concomitance of these situations.

scholarly journals Pathogenic substitution of IVS15 + 5G > A in SLC26A4 in patients of Okinawa Islands with enlarged vestibular aqueduct syndrome or Pendred syndrome

2013 ◽  
Vol 14 (1) ◽  
Author(s):  
Akira Ganaha ◽  
Tadashi Kaname ◽  
Kumiko Yanagi ◽  
Kenji Naritomi ◽  
Tetsuya Tono ◽  
...  
Keyword(s):  
Pendred Syndrome ◽  
Enlarged Vestibular Aqueduct ◽  
Vestibular Aqueduct

Auditory and imaging markers of atypical enlarged vestibular aqueduct

2021 ◽  
Author(s):  
Linsheng Wang ◽  
Yuanlin Qin ◽  
Laimin Zhu ◽  
Xiaoyu Li ◽  
Yueqin Chen ◽  
...  
Keyword(s):  
Enlarged Vestibular Aqueduct ◽  
Vestibular Aqueduct ◽  
Imaging Markers

Progressive Sensorineural Hearing Loss and a Widened Vestibular Aqueduct in Pendred Syndrome

1998 ◽  
Vol 124 (5) ◽  
pp. 501 ◽  
Author(s):  
Cor W. R. J. Cremers ◽  
Cuny Bolder ◽  
Ronald J. C. Admiraal ◽  
Lorraine A. Everett ◽  
Frank B. M. Joosten ◽  
...  
Keyword(s):  
Hearing Loss ◽  
Sensorineural Hearing Loss ◽  
Sensorineural Hearing ◽  
Pendred Syndrome ◽  
Vestibular Aqueduct
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