The clinical term for a large head is macrocephaly, and when it’s an inherited trait, it’s known as benign familial macrocephaly. Macrocephaly is diagnosed in 2-5% of the population, according to the ...

I arranged to see the patient the following Saturday morning. She was a middle-aged woman with macrocephaly, distinct kyphosis, and several small lesions scattered about her face that looked to me ...

Researchers identified key clinical factors like motor delays and hypotonia that predict genetic diagnoses in children with ...

"We had a CT of Eden’s head because of her macrocephaly (larger head) and an EEG for suspected seizures. Both came back clean. Additionally, we did a hip X-ray because she couldn't put weight on ...

Some went as far as suggesting that he might have a rare disease called macrocephaly. Read more: Tragic Details About ...

2023. PAK1 c.1409T>A (p.Leu470Gln) de novo variant disrupts the protein kinase domain, leading to epilepsy, macrocephaly, spastic quadriplegia, and hydrocephalus: Case report and review of the ...

Replacing medical terms with layperson's language – for example "macrocephaly" with "a big head" – had a dramatic impact on their performance, however, with no LLM showing accuracy above 21% ...