Asymmetric choroidal hypopigmentation in a Son and mother with Waardenburg syndrome type I
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 کاملDifferent Cardiac Anomalies in Mother and Son with 4q-Syndrome
We report a female patient with asymptomatic cor triatriatum sinister, associated with 4q34.3 deletion. Her child, carrying the same imbalance, suffers from tetralogy of Fallot. To the best of our knowledge, this is the first reported case of cor triatriatum associated with deletion of the long arm of the chromosome 4; furthermore, the majority of patients with chromosome 4 long arm syndrome ha...
متن کاملthe past hospitalization and its association with suicide attempts and ideation in patients with mdd and comparison with bmd (depressed type) group
چکیده ندارد.
Clinical findings in Japanese patients with Waardenburg syndrome type 2.
PURPOSE To determine the visual characteristics of Japanese subjects with the Waardenburg syndrome type 2. METHODS The visual functions of 11 albino patients who were identified from the screening of 240 children attending a school for children with a hearing deficit were studied. The ophthalmological examinations included eye position, visual acuity, biomicroscopy, ophthalmoscopy, visual fie...
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...
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ژورنال
عنوان ژورنال: Ophthalmic Genetics
سال: 2020
ISSN: 1381-6810,1744-5094
DOI: 10.1080/13816810.2020.1750037