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

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?

Yes; Dr Stefan is right. We had 2 cases which are proved to be Wardenburg syndrome.

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

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.

i have posted similar photo of one baby with Waardenburg syndrome .on image library. but our patient failed ABR