Waardenburg Syndrome Type-II in Twin Siblings: An Unusual Audio-Pigmentary Disorder
نویسندگان
چکیده
منابع مشابه
Waardenburg syndrome Type II.
Two rare cases of Waardenburg type II are reported. First case had three main features of WS--profound SN hearing loss, hetrochromia iris and white forelock of hair. Second case had moderate SNHL and depigmentation of hair.
متن کاملWaardenburg Syndrome in an Arab Family
By Laman Amin -ZaKI (Baghdad), The Journal of Laryngology and Otology, 1971.
متن کاملA Comprehensive Genetic and Clinical Evaluation of Waardenburg Syndrome Type II in a Set of Iranian Patients
Waardenburg syndrome (WS) is a neurocristopathy with an autosomal dominant mode of inheritance, and considerable clinical and genetic heterogeneity. WS type II is the most common type of WS in many populations presenting with sensorineural hearing impairment, heterochromia iridis, hypoplastic blue eye, and pigmentary abnormalities of the hair and skin. To date, mutations of MITF, SOX10, and SNA...
متن کاملWaardenburg syndrome
Waardenburg syndrome was first reported by van der Hoeve in 1916. In 1951, Waardenburg defined 6 main features: (1) dystopia canthorum, (2) prominent broad nasal root, (3) synophrys, (4) white forelock, (5) heterochromia iridis, and (6) congenital deaf-mutism. Four types of Waardenburg syndrome have now been delineated on the basis of clinical and genetic criteria. The molecular defective gene ...
متن کاملGenetic and Phenotypic Heterogeneity in Chinese Patients with Waardenburg Syndrome Type II
Waardenburg Syndrome (WS) is an autosomal-dominant disorder characterized by sensorineural hearing loss and pigmentary abnormalities of the eyes, hair, and skin. Microphthalmia-associated transcription factor (MITF) gene mutations account for about 15% of WS type II (WS2) cases. To date, fewer than 40 different MITF gene mutations have been identified in human WS2 patients, and few of these wer...
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ژورنال
عنوان ژورنال: Cureus
سال: 2020
ISSN: 2168-8184
DOI: 10.7759/cureus.10889