Waardenburg Syndrome Type II, Associated with Atrial Septal Defect and Rocker Bottom Foot in a New Born – A Rare Case Presentation
Jeffy J. K.
Department of Pediatrics, J. L. N. Medical College Ajmer Rajasthan, India.
. Satyendra
Department of Pediatrics, J. L. N. Medical College Ajmer Rajasthan, India.
Jaiprakash Narayan *
Department of Pediatrics, J. L. N. Medical College Ajmer Rajasthan, India.
*Author to whom correspondence should be addressed.
Abstract
Background: There are a number of syndromes with a combination of pigmentary abnormalities, hearing abnormalities and other defects. One among these pigmentary syndromes is waardenburg syndrome, which is further classified into four types. All these types show marked variability even within pedigrees.
Case-Report: We are reporting a case of Waardenburg syndrome type 2, with an unusual presentation of atrial septal defect and rocker bottom foot.
Conclusion: All clinicians on noticing, any child with white forelock of hair or heterochromia iris should get the child’s hearing tested and further systemic evaluation, at the first instance, because an early intervention for hearing impairment and other defects can improve the outcome of child. Family counselling is at-most important for these children with syndromes.
We describe a unique case of Waardenburg syndrome type 2 with an unusual presentation of atrial septal defect and rocker bottom foot.
Keywords: Waardenburg syndrome, pigmentary abnormalities, hearing abnormalities, pigmentation, Alar Hypoplasia.