Now this is a tricky one: much of Dr. Wen-Hann Tan’s assessment would normally rely on family history, which we don’t have. He checked for Connexin 26, 30, and SLC26S4 (PDS) gene mutations, mitochondrial DNA gene mutations, and her electrocardiogram. All normal. On examination, he noted an unusually wide inner canthal distance (3.2 cm), with a ratio to interpupillary distance of .59. Her irides are the same color, and she has no white forelock, but she meets the dystopia canthorum criteria for Waardenburg syndrome. So we’ll look into testing her DNA for that after her opthamology appointment.Li-Li in Harvard Yard to greet the new President:
Genetics Testing at Children’s Hospital!
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