Abstract
The Waardenburg syndrome (WS) is a neurocristopathy caused due to arrest of migration of neural crest cells. The incidence is 1 in 40,000-50,000 live births. It is an autosomal dominant disorder. Its manifesting are sensorineural deafness, pigmentation defects of the hair, skin, and iris and various defects of neural crest-derived tissues. The Shah-Waardenburg syndrome (type-IV WS, SWS) is associated with Hirschsprung’s disease. A three-day old male baby was brought with vomiting and not passed meconium since birth, abdominal distension for two days. On examination baby was stable. Anterior fontanelle open, White Forelock Present. Depressed nasal bridge present. Increased intercanthal distance and heterochromia of iris present. Abdominal X-ray and USG-Abdomen showed distal small bowel obstruction. A clinical diagnosis of Shah‐Waardenburg syndrome or Waardenburg syndrome type 4 was made and treated. A higher morbidity and mortality are documented and thus, early intervention is essential to prevent fulminant enterocolitis and sepsis.
Key words: White forelock, Hirschsprung’s disease, Neonate