Results 21 to 30 of about 3,568 (145)
A rare case of seven siblings with Waardenburg syndrome: a case report
Journal of Medical Case Reports, 2018 Background Waardenburg syndrome is a group of rare genetic conditions. It is determined by the absence of melanocytes from the eyes, hair, and skin. There are four types of Waardenburg syndrome with specific criteria to diagnosis the different types. The
Luma Haj Kassem +2 more
doaj +1 more source
Audiological outcomes of cochlear implantation in Waardenburg Syndrome
International Archives of Otorhinolaryngology, 2013 Summary Introduction: The most relevant clinical symptom in Waardenburg syndrome is profound bilateral sensorioneural hearing loss. Aim: To characterize and describe hearing outcomes after cochlear implantation in patients with ...
Ana Tereza de Matos Magalhães +5 more
doaj +1 more source
A case of Waardenburg syndrome type I with congenital sensorineural hearing loss
Acta Oto-Laryngologica Case Reports, 2023 Waardenburg syndrome is a rare genetic disorder characterized by hearing loss in association with pigmentary defects of the skin, hair and eyes. It is caused by the gene mutation involved in the development of melanocyte.
Quang Minh Le-Tran +2 more
doaj +1 more source
Você conhece esta síndrome? Do you know this syndrome?
Anais Brasileiros de Dermatologia, 2007 Na síndrome de Waardenburg, genodermatose autossômica dominante, distúrbios da pigmentação (hipo ou acromia de pele e cabelos, heterocromia da íris) podem se associar a surdez, distopia do canto interno do olho e, eventualmente, outras malformações de ...
Erick Dancuart Omar +2 more
doaj +1 more source
Stem Cell Research, 2021 SOX10 is one of the master transcription factors in neural crest development. Human SOX10 mutations are associated with Waardenburg syndrome type 4 (Waardenburg-Shah, WS4), which can be inherited in both autosomal dominant and recessive patterns.
Tao Wang +3 more
doaj +1 more source
Indian Journal of Otolaryngology and Head and Neck Surgery, 2004 We report a case of Waardenburg syndrome in a female child aged 2yrs. Petrus Johannes Waardenburg(1) , a Dutch Ophthalmologist in 1951 described individuals with retinal pigmentary differences who had varying degrees of hearing loss and dystopia canthorum (i.e., latral displacement of inner canthi of eyes).
Manish, Mehta +2 more
openaire +3 more sources
Waardenburg syndrome: A rare case
Oman Journal of Ophthalmology, 2018 Waardenburg Syndrome is a rare disorder of neural crest cell development. It is genetically inherited. Varying in prevalence from 1:42000 to 1:50,000, it compromises approximately 2-5% of congenital deaf children.
Shivlal M Rawlani +3 more
doaj +1 more source
Kerala Journal of Ophthalmology, 2022 A day-old male neonate presented with white forelock on his forehead. On evaluation, the neonate had telecanthus, broad nasal bridge, and surprisingly homochromic but hypochromic irides bilaterally.
Shruthy Vaishali Ramesh +3 more
doaj +1 more source
Molecular Genetics & Genomic Medicine, 2020 Background Waardenburg syndrome (WS) is a highly clinically and genetically heterogeneous disease. The core disease phenotypes of WS are sensorineuronal hearing loss and pigmentary disturbance, which are usually caused by the absence of neural crest cell‐
Shuzhi Yang +5 more
doaj +1 more source
Developmental Dynamics, EarlyView.Abstract Neural crest cells are a transient cell population that emerges from the dorsal neural tube during neurulation and migrates extensively throughout the embryo. Among their diverse derivatives, glial cells (such as Schwann and satellite ganglionic cells) and melanocytes represent two major lineages. In vitro studies suggested they share a common
Chaya Kalcheim
wiley +1 more source