Association of Shah-Waardenburgh syndrome: a review of 6 cases

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“…A white forelock may take time to become obvious in babies [8]. Two of our children demonstrated gradual loss of pigment over time and the leukoderma evolved during the stay in the neonatal ICU (Figure 3).…”

“…As regards the phenotypic manifestations, a review of six cases by Jan et al [8] concluded that HD should be ruled out in any baby with white forelock and cutaneous depigmentation. Considering the rapid course of enterocolitis and the hurdles of administering medical care in a resource challenged nation, widespread sensitization of primary care physicians and paediatricians is essential to ensure early referral.…”

Waardenburg syndrome with extended aganglionosis: report of 3 new cases

“…Patients with short segment involvement mostly present at a more advanced age with chronic constipation, malabsorption, and enterocolitis, whereas those with long segment involvement present with intestinal obstruction findings such as bilious vomiting, abdominal distension, and inability to feed orally from the first few days of life [2,4,12,17]. The intestinal involvement in our cases was within 20 cm distal to the Treitz ligament and the patients presented with bilious vomiting, abdominal distension, and inability to pass meconium in the first 3 days after birth.…”

Extended long-segment Hirschsprungs’ disease in the Waardenburg–Shah syndrome

“…Waardenburg-Shah syndrome patients have a higher incidence of total colonic aganglionosis with or without smallbowel involvement. Such babies are seriously malnourished and show higher association of enterocolitis [2]. We report a case of Shah-Waardenburg syndrome with extended longsegment aganglionosis.…”