Volume : VIII, Issue : II, February - 2019
WAARDENBURG SYNDROME: RARE CASE REPORT
Dr. Pankaj Narwade, Dr. Roopal Khobragade, Dr. Balwant Khobragade, Dr. Manisha Albal
Abstract :
The Waardenburg–Shah syndrome (WSW) is an autosomal recessive disease with varied presentation where Hirschsprung‘s disease and the Waardenburg syndrome are seen together. Majority of patients have total colonic aganglionosis with or without small bowel involvement. This is a rare syndrome so we present in this study a neonate full term male 2.7 kg delivered by caesarian section presented with white forelock and multiple colonic biopsy confirmed to have Hirschprungs disease.Conclusion: This is a rare disorder in neonatal period with varied presentation. Surgical management may be used in these patients to gain some time for the child to grow and to decrease complications associated with total parenteral nutrition. However prognosis is very poor. An early diagnosis and improvement of heå impairment with timely intervention are the most important for children with Waardenburg syndrome
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DOI : 10.36106/ijsr
Cite This Article:
WAARDENBURG SYNDROME: RARE CASE REPORT, DR. PANKAJ NARWADE, DR. ROOPAL KHOBRAGADE, DR. BALWANT KHOBRAGADE, DR. MANISHA ALBAL INTERNATIONAL JOURNAL OF SCIENTIFIC RESEARCH : Volume-8 | Issue-2 | February-2019
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WAARDENBURG SYNDROME: RARE CASE REPORT, DR. PANKAJ NARWADE, DR. ROOPAL KHOBRAGADE, DR. BALWANT KHOBRAGADE, DR. MANISHA ALBAL INTERNATIONAL JOURNAL OF SCIENTIFIC RESEARCH : Volume-8 | Issue-2 | February-2019
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