Waardenburg Syndrome: Iris and Choroidal Hypopigmentation
نویسندگان
چکیده
منابع مشابه
Waardenburg 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 کامل[Waardenburg syndrome--ophthalmic findings and criteria for diagnosis: case reports].
PURPOSE To describe the clinical and imaginological features of two families with Waardenburg syndrome: type I and II, with emphasis on ophthalmic manifestations, as well as the pattern of genetic inheritance. METHODS We conducted a clinical study involving two families affected by Waardenburg syndrome, and through the pedigree, determined the present pattern of genetic inheritance. Analyses ...
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 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.
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ژورنال
عنوان ژورنال: JAMA Ophthalmology
سال: 2013
ISSN: 2168-6165
DOI: 10.1001/jamaophthalmol.2013.4190