Waardenburg syndrome is a rare autosomal dominant genetic disorder of neural crest cell migration. It is characterized by congenital sensorineural hearing loss, heterochromia iridis, depigmentation of hair and skin, and increased intercanthal distance. It is subdivided into four subtypes with I and II being most common. These subtypes are categorized based on genetic mutations. Although medical literature has well documented this syndrome, dental and radiographical findings have been rarely presented. In this case report and literature review, we have presented and discussed oral as well as head and neck radiology findings of a 20-year-old girl with Waardenburg syndrome.

Download full-text PDF

Source
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC7709062PMC
http://dx.doi.org/10.1259/bjrcr.20200071DOI Listing

Publication Analysis

Top Keywords

waardenburg syndrome
12
case report
8
oral manifestation
4
manifestation waardenburg
4
syndrome
4
syndrome case
4
report review
4
review literature
4
literature waardenburg
4
syndrome rare
4

Similar Publications

A novel frameshift mutation of SOX10 identified in Waardenburg syndrome type 2.

Hum Mol Genet

January 2025

Department of Facial Plastic and Reconstructive Surgery, ENT Institute, Eye & ENT Hospital, Fudan University, No. 83 Fenyang Road, Xuhui District, Shanghai 200031, China.

Waardenburg syndrome type 2 (WS2) is an autosomal dominant disorder characterized by congenital sensorineural hearing loss, blue iris, and abnormal pigmentation of the hair and skin. WS2 is genetically heterogeneous, often resulting from pathogenic mutations in SOX10 gene. We identified a novel heterozygous frameshift mutation in SOX10 (NM_006941.

View Article and Find Full Text PDF

Unraveling the genetic spectrum of inherited deaf-blindness in Portugal.

Orphanet J Rare Dis

January 2025

Ophthalmology Department, Centro Hospitalar e Universitário de Coimbra (CHUC), Hospitais da Universidade de Coimbra (HUC), ULS Coimbra, Praceta Prof. Mota Pinto, 3000-075, Coimbra, Portugal.

Background: Syndromic genetic disorders affecting vision can also cause hearing loss, and Usher syndrome is by far the most common etiology. However, many other conditions can present dual sensory impairment. Accurate diagnosis is essential for providing patients with genetic counseling, prognostic information, and appropriate resources.

View Article and Find Full Text PDF

Background: More self-efficacy leads to greater confidence in one's ability to perform actions to achieve treatment goals. Therefore, self-efficacy may affect patient recovery and health-related quality of life (HRQoL) after ICU discharge.

Aim: In a cohort of mechanically ventilated COVID-19 survivors, we examined the associations between self-efficacy at 3 months and HRQoL at 3, 12 and 24 months after discharge.

View Article and Find Full Text PDF

Worldwide, congenital deafness and pigmentation disorders impact millions with their diverse manifestations, and among these genetic conditions, mutations in the Microphthalmia-associated transcription factor (MITF: OMIM#156845) gene are notable for their profound effects on melanocyte development and auditory functions. This study reports a novel porcupine model exhibiting spontaneous deafness and pigmentation abnormalities reminiscent of human Waardenburg Syndrome Type 2 (WS2: OMIM#193510). Through phenotypic characterization, including coat color, skin, eye morphology, and auditory brainstem response (ABR) assessments, we identified hypopigmentation and complete deafness in mutant porcupines.

View Article and Find Full Text PDF

Objective: To evaluate the audiologic outcomes after cochlear implantation (CI) in prelingually deaf children with comorbid disorders.

Study Design: Retrospective study.

Setting: Tertiary care academic center.

View Article and Find Full Text PDF

Want AI Summaries of new PubMed Abstracts delivered to your In-box?

Enter search terms and have AI summaries delivered each week - change queries or unsubscribe any time!