Waardenburg Syndrome – A Case Report

Journal Title: Journal of Medical Science And clinical Research - Year 2015, Vol 3, Issue 5

Abstract

Waardenburg syndrome is an autosomal dominant disorder often characterised by pigmentary anomalies of skin and hair and various defects of neural crest tissues. It accounts for 1-3% of all cases of congenital deafness. Here we describe two siblings, congenitally mute and deaf with heterochromia irides. Case I; is one and half year old male with complete heterochromia irides and associated Hirschprung’s disease. Case II is seven year old female with bilateral partial heterochromia irides.

Authors and Affiliations

Dr Shabana Borate

Keywords

Related Articles

Giant Occipital Encephalocele – A Report of Two Rare Cases

Encephalocele is a common congenital malformation in which central nervous system structure in communication with cerebrospinal fluid pathway herniate through the skull. The incidence of occipital encephalocele is 1/10,0...

Prognostic Significance of VEGF and bFGF in Egyptian CLL Patients

Though an impressive number of prognostic factors have been identified in chronic lymphocytic leukemia (CLL), which exhibits a high variability in its clinical presentation and course, many of them have not yet been appl...

Clinico-Pathological Correlation of Thyroid Swellings

Aims and Objectives: To elucidate the clinical presentation of thyroid swelling and to assess the Clinico – Pathological correlation of thyroid swellings. Materials and Methods: A prospective observational study was cond...

Prophylactic Efficiency of Oral Ephedrine in Preventing Hypotension Due to Spinal Anaesthesia for Caesarean Section

The commonest form of anaesthesia for caesarean section is spinal anaesthesia. It is associated with a fall in blood pressure with a comparable fall in uteroplacental blood flow. This leads to fetal hypoxia and acidosis....

Choroid Plexus Carcinoma of Third Ventricle – A Case Report

Choroid plexus carcinomas are extremely rare and rapidly growing intra ventricular tumors which are more frequently seen in young children. Choroid plexus tumors commonly involve lateral ventricles and fourth ventricle a...

Download PDF file
  • EP ID EP211576
  • DOI -
  • Views 60
  • Downloads 0

How To Cite

Dr Shabana Borate (2015). Waardenburg Syndrome – A Case Report. Journal of Medical Science And clinical Research, 3(5), 5644-5648. https://europub.co.uk/articles/-A-211576