Waardenburg Syndrome in an Arab Family
نویسندگان
چکیده مقاله:
By Laman Amin -ZaKI (Baghdad), The Journal of Laryngology and Otology, 1971.
منابع مشابه
Waardenburg syndrome and myelomeningocele in a family.
We report the first family with Waardenburg syndrome type 1 and myelomeningocele in which more than one subject was affected with both disorders. The possible association is discussed. Prenatal screening for myelomeningocele is suggested for a family with Waardenburg syndrome type 1.
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 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 کاملGenetic analysis of an Indian family with members affected with Waardenburg syndrome and Duchenne muscular dystrophy
PURPOSE Waardenburg syndrome (WS) is characterized by sensorineural hearing loss and pigmentation defects of the eye, skin, and hair. It is caused by mutations in one of the following genes: PAX3 (paired box 3), MITF (microphthalmia-associated transcription factor), EDNRB (endothelin receptor type B), EDN3 (endothelin 3), SNAI2 (snail homolog 2, Drosophila) and SOX10 (SRY-box containing gene 10...
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عنوان ژورنال
دوره 1 شماره 3
صفحات 259- 262
تاریخ انتشار 1973-03
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