scholarly journals Waardenburg Syndrome Type 1 in an Infant Diagnosed with Congenital Hypothyroidism

2019 ◽  
Vol 39 (1) ◽  
pp. 60-62
Author(s):  
Kavinda Chandimal Dayasiri ◽  
Chamila Perera ◽  
Wasana Bandara ◽  
Jagath Ranasinghe
Keyword(s):  
Hearing Loss ◽  
Sensorineural Hearing Loss ◽  
Clinical Features ◽  
Congenital Hypothyroidism ◽  
Autosomal Dominant ◽  
Incidental Finding ◽  
Syndrome Type ◽  
Waardenburg Syndrome ◽  
Minor Criteria

Waardenburg syndrome type 1 is a rare autosomal dominant auditory-pigmentary syndrome characterised by pigmentary abnormalities of the hair, skin, and eyes associated with congenital non-progressive sensorineural hearing loss. Diagnosis is usually clinical and based on the characteristic clinical features which constitute major and minor criteria. Though hypothyroidism has been described among family members of children with Waardenburg syndrome type 1 there is no reported existence of the two conditions in the same patient. Here we report Waardenburg Syndrome Type 1 in an infant who was already diagnosed to have congenital hypothyroidism and whether it would be a co incidental finding or an association needs further evaluation.

A mutation in Wolfram syndrome type 1 gene in a Japanese family with autosomal dominant low-frequency sensorineural hearing loss

2005 ◽  
Vol 125 (11) ◽  
pp. 1189-1194 ◽  
Author(s):  
Yoshihiro Noguchi ◽  
Takatoshi Yashima ◽  
Akio Hatanaka ◽  
Masamichi Uzawa ◽  
Michio Yasunami ◽  
...  
Keyword(s):  
Hearing Loss ◽  
Sensorineural Hearing Loss ◽  
Autosomal Dominant ◽  
Low Frequency ◽  
Wolfram Syndrome ◽  
Sensorineural Hearing ◽  
Syndrome Type ◽  
Japanese Family

scholarly journals Waardenburg Syndrome: A Case Report

2019 ◽  
pp. 1-4
Author(s):  
Sara Sadiq ◽  
Azizullah Langah ◽  
Ali Akbar Siyal ◽  
Noor Ul Ain Ali
Keyword(s):  
Hearing Loss ◽  
Case Report ◽  
Sensorineural Hearing Loss ◽  
Autosomal Dominant ◽  
Congenital Deafness ◽  
Waardenburg Syndrome ◽  
Degree Relative ◽  
Heterochromia Iridis ◽  
Dystopia Canthorum ◽  
Minor Criteria

Waardenburg syndrome is an uncommon autosomal dominant or recessive disorder, distinguished by hypopigmentation of either skin or hairs or both, segmental, partial or complete heterochromia iridis or isohypochromia, hypertrichosis of eyebrow, synophrys, dystopia canthorum, broad and high nasal root and congenital deafness. The diagnostic criteria consist of major and minor criteria; major includes congenital sensorineural hearing loss, pigmentary abnormality in iris, segmental, partial or complete heterochromia iridis, isohypochromia, fore hair’s achromia, dystopia canthorum and affected first degree relative while minor criteria include congenital leukoderma, synophrys, broad and high nasal root, hypoplasia of nasal alae and premature graying of hair. Herein we report a case of two days old baby boy having uncommon pigmentation of hair and iris beside dystopia canthorum. He was diagnosed as a case of Waardenburg Syndrome type1 (WS1).

Hearing loss and Waardenburg's syndrome: Implications for genetic counselling

1990 ◽  
Vol 104 (2) ◽  
pp. 97-103 ◽  
Author(s):  
Valerie Newton
Keyword(s):  
Hearing Loss ◽  
Sensorineural Hearing Loss ◽  
Genetic Counselling ◽  
Sensorineural Hearing ◽  
Syndrome Type ◽  
Type Ii ◽  
Waardenburg Syndrome ◽  
Bilateral Sensorineural Hearing Loss ◽  
Asymmetric Configuration

AbstractTen families in which there were 79 individuals affected by Waardenburg's syndrome were examined for penetrance of sensorineural hearing loss and expressivity of the gene. There were 47 with Waardenburg syndrome Type 1 and 32 with Waardenburg syndrome Type II. Penetrance of senorineural hearing loss was calculated after exclusion of the probands and was found not to be significantly different between each syndrome type but to show marked interfamilial variation. A bilateral sensorineural hearing loss was present more frequently than unilateral with the proportion varying between families. Certain audiometric shapes were found to recur in the syndrome but, apart from possibly one asymmetric configuration, seem to have been described also in other conditions. The degree of hearing loss was very variable within and between families. The implications for genetic counselling are discussed and the advantages of basing risk factors upon individual families rather than syndrome types emphasized.

scholarly journals A novel SOX10 variant in a Japanese girl with Waardenburg syndrome type 4C and Kallmann syndrome

2020 ◽  
Vol 7 (1) ◽  
Author(s):  
Junpei Hamada ◽  
Fumihiro Ochi ◽  
Yuka Sei ◽  
Koji Takemoto ◽  
Hiroki Hirai ◽  
...  
Keyword(s):  
Hearing Loss ◽  
Sensorineural Hearing Loss ◽  
Hypogonadotropic Hypogonadism ◽  
Hirschsprung Disease ◽  
Kallmann Syndrome ◽  
Syndrome Type ◽  
Waardenburg Syndrome ◽  
First Case ◽  
Iris Depigmentation ◽  
Bilateral Sensorineural Hearing Loss

AbstractWe report the first case of Waardenburg syndrome type 4C and Kallmann syndrome in the same person. The patient, a Japanese girl, presented with bilateral iris depigmentation, bilateral sensorineural hearing loss, Hirschsprung disease, hypogonadotropic hypogonadism, and anosmia. We identified a novel SOX10 variant, c.124delC, p.Leu42Cysfs*67.

scholarly journals A De Novo from Mutational Analysis in PAX3 in Hearing Loss Children Caused Waardenburg Syndrome Type 1 at Children Hospital-1 in Ho Chi Minh City, Vietnam

2017 ◽  
Vol 1 (2) ◽  
pp. 1-4
Author(s):  
Nguyen Dinh Pham ◽  
Dung Huu Nguyen ◽  
Tran Huyen Lam ◽  
Kieu Tho Nguyen ◽  
Chuong Dinh Nguyen ◽  
...  
Keyword(s):  
Hearing Loss ◽  
De Novo ◽  
Mutational Analysis ◽  
Ho Chi Minh City ◽  
Syndrome Type ◽  
Waardenburg Syndrome

scholarly journals Sudden sensorineural hearing loss in patients with vestibular schwannoma

2021 ◽  
Vol 11 (1) ◽  
Author(s):  
Koichiro Wasano ◽  
Naoki Oishi ◽  
Masaru Noguchi ◽  
Ko Hentona ◽  
Seiichi Shinden ◽  
...  
Keyword(s):  
Hearing Loss ◽  
Sensorineural Hearing Loss ◽  
Clinical Features ◽  
Vestibular Schwannoma ◽  
Recovery Rate ◽  
Treatment Plan ◽  
Full Range ◽  
Sudden Sensorineural Hearing Loss ◽  
Sensorineural Hearing ◽  
Recurrence Time

AbstractClinical features of sudden sensorineural hearing loss (SSNHL) associated with vestibular schwannoma (VS) are not fully understood. Determining a treatment plan and explaining it to patients requires clinicians to clearly understand the clinical features related to the tumor, including SSNHL. To identify the full range of clinical features of VS-associated SSNHL, especially recovery of hearing following multiple episodes of SSNHL and what factors predict recovery and recurrence. A multicenter retrospective chart review was conducted in seven tertiary care hospitals between April 1, 2011, and March 31, 2020. We collected and analyzed dose of administered steroid, pure-tone audiometry results, and brain MRIs of patients diagnosed with VS-associated SSNHL. Seventy-seven patients were included. They experienced 109 episodes of audiogram-confirmed SSNHL. The highest proportion of complete recoveries occurred in patients with U-shaped audiograms. The recovery rates for the first, second, and third and subsequent episodes of SSNHL were 53.5%, 28.0%, and 9.1%, respectively. Recovery rate decreased significantly with increasing number of SSNHL episodes (P =0 .0011; Cochran-Armitage test). After the first episode of SSNHL, the recurrence-free rate was 69.9% over 1 year and 57.7% over 2 years; the median recurrence time was 32 months. Logarithmic approximation revealed that there is a 25% probability that SSNHL would recur within a year. SSNHL in patients with VS is likely to recur within one year in 25% of cases. Also, recovery rate decreases as a patient experiences increasing episodes of SSNHL.

Sign in / Sign up

Export Citation Format

Share Document