Waardenburg Syndrome in an Arab Family

Authors

  • Aman Ghujghi Translater, Iran.
  • Laman Amin Baghdad, Iraq.
Abstract:

By Laman Amin -ZaKI (Baghdad), The Journal of Laryngology and Otology, 1971. 

Upgrade to premium to download articles

Sign up to access the full text

Already have an account?login

similar resources

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.

full text

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 ...

full text

Syndrome 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...

full text

Shah-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...

full text

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.

full text

Genetic 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...

full text

My Resources

Save resource for easier access later

Save to my library Already added to my library

{@ msg_add @}


Journal title

volume 1  issue 3

pages  259- 262

publication date 1973-03

By following a journal you will be notified via email when a new issue of this journal is published.

Keywords

Hosted on Doprax cloud platform doprax.com

copyright © 2015-2023