Literature DB >> 22136859

Waardenburg Syndrome type 1: A case report.

Gulsen Tukenmez Demirci1, Guldehan Atıs, Ilknur Kıvanc Altunay.   

Abstract

Waardenburg Syndrome (WS) is a rare hereditary disorder that is characterized by the clinical manifestations of oculocutaneous anomalies of pigmentation, congenital deafness, dystopia canthorum, and broad nasal root. It demonstrates both genetically and clinically heterogenous characteristics. In this article, we report an 11-month-old boy with WS1, one of four clinicat types of WS. He exhibited white forelock, hypopigmented macules and patches, heterochromia irides, and dystopia canthorum.

Entities:  

Mesh:

Substances:

Year:  2011        PMID: 22136859

Source DB:  PubMed          Journal:  Dermatol Online J        ISSN: 1087-2108


  1 in total

1.  Syndrome in Question.

Authors:  Juliano Peruzzo; Fernanda Luca Nazar; Mariana Quirino Tubone; Gabriela Fortes Escobar; Tania Ferreira Cestari
Journal:  An Bras Dermatol       Date:  2015 Jul-Aug       Impact factor: 1.896

  1 in total

北京卡尤迪生物科技股份有限公司 © 2022-2023.