Accepted at: Jun, 01, 2025
6:01 a.m.
Author:
oma021
Co-authors:
herstein.jacob
Related Deck:
1659122273009
Accepted
Rationale for new note
First Aid, NBME 30, AMBOSS QID
Text
{{c1::Waardenburg}} syndrome presents with patchy depigmentation of the skin, hair, and irises; sometimes associated with deafness
Text
{{c1::<b>Waardenburg</b>}} <b>syndrome</b> presents with <b>patchy depigmentation</b> of the <u>skin</u>, <u>hair</u>, and <u>irises</u>; sometimes associated with <u>deafness</u>
Extra
- Patients typically present with a white forelock and eyelashes, iridic heterochromia, depigmented skin patches, limb abnormalities, facial abnormalities (broad nasal root, cleft lip or palate), and sensorineural hearing loss
- Due to defect in differentiation of neural crest cells into melanocytes
- Ten disease subtypes caused by a variety of genetic mutations; most common are PAX3 and SOX10
- Due to defect in differentiation of neural crest cells into melanocytes
- Ten disease subtypes caused by a variety of genetic mutations; most common are PAX3 and SOX10
Extra
- Patients typically present with a <b>white forelock and eyelashes</b>, iridic <b>heterochromia</b>, depigmented skin patches, limb abnormalities, <b>facial abnormalities</b> (broad nasal root, cleft lip or palate), and <b>sensorineural hearing loss<br></b><br>- Due to defect in differentiation of <u>neural crest cells</u> into melanocytes<br><br>- Ten disease subtypes caused by a variety of genetic mutations; most common are PAX3 and SOX10
Lecture Notes
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Lecture Notes
Missed Questions
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Missed Questions
Pathoma
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Pathoma
Boards and Beyond
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Boards and Beyond
First Aid
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First Aid
Sketchy
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Sketchy
Sketchy 2
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Sketchy 2
Sketchy Extra
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Sketchy Extra
Picmonic
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Picmonic
Pixorize
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Pixorize
Physeo
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Physeo
Bootcamp
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Bootcamp
OME
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OME
Additional Resources
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Additional Resources
One by one
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One by one
Tags
#AK_Step1_v12::#AMBOSS::yxYd_r
#AK_Step1_v12::#FirstAid::11_Musculoskeletal_Skin_and_Connective_Tissue::03_Derm::06_Pigmented_skin_disorders::04_Waardenburg_Syndrome
#AK_Step1_v12::#NBME::30
#AK_Other::New_Cards::2025