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
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 کاملSyndrome de Waardenburg
Le syndrome de Waardenburg associe une surdité à des anomalies de pigmentation. Ce syndrome est autosomique dominant à pénétrance et expressivité variable en inter et en intra familial, d'où l'intérêt du diagnostic prénatal dans les cas à risque. Le type I présente une association clinique comprenant au moins 2 critères majeurs ou au moins un critère majeur et 2 critères mineurs. La surdité neu...
متن کاملShah-Waardenburg Syndrome
Shah-Waardenburg syndrome (SWS) is a neurocristopathy and is characterized by Hirschsprung's disease (HD), deafness, and depigmentation of hairs, skin, and iris. Is a very rare congenital disorder with variable clinical expression. This report describes a 4-day-old male newborn with Waardenburg's syndrome associated with aganglionosis of the colon and terminal ileum, and review the relevant lit...
متن کاملWaardenburg syndrome: clinical differentiation between types I and II.
Here we present the results of a study performed on 59 patients affected by Waardenburg syndrome (WS), 30 with the I variant, 21 having the type II, and 8 of them being isolated cases without telecanthus. These patients belong to 37 families; the main contributions and conclusions are based on the detailed study of 25 of these families, examined using standard procedures. All patients were exam...
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ژورنال
عنوان ژورنال: The Indian Journal of Pediatrics
سال: 2020
ISSN: 0019-5456,0973-7693
DOI: 10.1007/s12098-019-03170-5