Posted September 26, 200915 yr Hello, we have a newborn with white forelock of hair and hypopigmentation in glove and stocking pattern oh hands and feet. Has heterochromia iris. 9 days old now admitted for jaundice. Diagnosis? and further workup? selvan .r india
September 27, 200915 yr I would suggest that you browse OMIM http://www.ncbi.nlm.nih.gov/omim/ I made a quick search for with the keywords "white forelock" and "heterochromia" and got a few hits including various forms of Waardenburg syndrome. Are there any associated malformations?
September 28, 200915 yr Yes; Dr Stefan is right. We had 2 cases which are proved to be Wardenburg syndrome.
October 7, 200915 yr Hi collegues. I think Waardenburg is the first option. Although is probably less common disease on neonatal period, we shouldn´t forget about Chediak-Higashi syndrome. This syndrome appear with partial albinism and reduced iris pigmentation too. Are her parents relatives?? There is any hematological alteration?? Congratulations for your work and for this web Here is a link from OMIM with the clinical synopsis of Waardenburg and Chediak-Higashi: http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=277580 http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=214500
October 28, 200915 yr Author this baby underwent detailed opthal exam. had heterochromia iris, pigments in fundus. BERA will be done to r/o deafness later. opthal felt waardenburg is the likely diagnosis sorry for the delay.
October 14, 201014 yr i have posted similar photo of one baby with Waardenburg syndrome .on image library. but our patient failed ABR
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