Diagnosis: Latest Post

Regan: Goldenhar Syndrome

Regan: Goldenhar Syndrome

Matthew has three very rare abnormalities. He has been diagnosed with Goldenhar syndrome, agenesis of the corpus callosum, and an extra copy of his 78N22 chromosome. Now at 12 years old, Regan, Matthew’s mom, shares her experience with Matthew so far.

Diagnosis

Katherine and Jeff: Ellis-Van Creveld syndrome

Katherine and Jeff: Ellis-Van Creveld syndrome

A routine prenatal ultrasound showed Katherine’s baby had shorter limbs than was typical.  Baby Arabella was misdiagnosed with fatal disorders twice while in utero. Katherine and Jeff refused to terminate the pregnancy. It wasn’t until she was born that they got...

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