ArticleAmerican journal of medical genetics. Part A2008
Sensorineural deafness, distinctive facial features, and abnormal cranial bones: a new variant of Waardenburg syndrome?
Article in American journal of medical genetics. Part A, 2008. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 14 papers.
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Who cites it
14 citing papers in PubMed, 26 citations in OpenAlex.
- Association ofInternational journal of molecular sciences · 2025Article
- Mild features of partialFrontiers in pediatrics · 2025Article
- Clinical and Genetic Correlation in Neurocristopathies: Bridging a Precision Medicine Gap.Journal of clinical medicine · 2024Review
- Review
- Case Report: Craniofacial deafness hand syndrome with unusual cardiovascular symptoms and lack of holistic care.Frontiers in genetics · 2024Article
- Identification of nine novel variants across PAX3, SOX10, EDNRB, and MITF genes in Waardenburg syndrome with next-generation sequencing.Molecular genetics & genomic medicine · 2022Article
- Genetic insights, disease mechanisms, and biological therapeutics for Waardenburg syndrome.Gene therapy · 2022Review
- fMRI evidence that hyper-caricatured faces activate object-selective cortex.Frontiers in psychology · 2022Article
- E-liquids and vanillin flavoring disrupts retinoic acid signaling and causes craniofacial defects in Xenopus embryos.Developmental biology · 2022Article
- Anterior ethmoidal artery emerging anterior to bulla ethmoidalis: An abnormal anatomical variation in Waardenburg's syndrome.Allergy & rhinology (Providence, R.I.) · 2014Article
- PAX3 gene deletion detected by microarray analysis in a girl with hearing loss.Molecular cytogenetics · 2014Article
- Heritabilities of facial measurements and their latent factors in korean families.Genomics & informatics · 2013Article
- A novel missense mutation of the paired box 3 gene in a Turkish family with Waardenburg syndrome type 1.Molecular vision · 2013Article
- Pigmentation PAX-ways: the role of Pax3 in melanogenesis, melanocyte stem cell maintenance, and disease.Pigment cell & melanoma research · 2008Review
Corrections and comments
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Authors and funding
5 authors at 2 institutions in 1 country.
Funding
Abstract
The Waardenburg syndromes (WS) account for approximately 2% of congenital sensorineural deafness. This heterogeneous group of diseases currently can be categorized into four major subtypes (WS types 1-4) on the basis of characteristic clinical features. Multiple genes have been implicated in WS, and mutations in some genes can cause more than one WS subtype. In addition to eye, hair, and skin pigmentary abnormalities, dystopia canthorum and broad nasal bridge are seen in WS type 1. Mutations in the PAX3 gene are responsible for the condition in the majority of these patients. In addition, mutations in PAX3 have been found in WS type 3 that is distinguished by musculoskeletal abnormalities, and in a family with a rare subtype of WS, craniofacial-deafness-hand syndrome (CDHS), characterized by dysmorphic facial features, hand abnormalities, and absent or hypoplastic nasal and wrist bones. Here we describe a woman who shares some, but not all features of WS type 3 and CDHS, and who also has abnormal cranial bones. All sinuses were hypoplastic, and the cochlea were small. No sequence alteration in PAX3 was found. These observations broaden the clinical range of WS and suggest there may be genetic heterogeneity even within the CDHS subtype.
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Registered trials
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