A 2-year-old boy with macrocephaly, communicating hydrocephalus, and mild hepatosplenomegaly was found to have mild Hunter syndrome (MPS II). Establishment of the latter diagnosis was complicated by ...

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

Results The median age of the cohort was 29.6 years; 60.6% had a height SD score (SDS) ≤−2 SDS despite 70% having received growth hormone treatment. Relative macrocephaly, feeding difficulties and a ...

"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 ...

Interneuron migration impairement could lead to macrocephaly Feb 23, 2018 Researchers identify new model of cerebral cortex development linked to reelin protein expression ...

Cheyenne tells PEOPLE about her tireless journey to find answers for her daughter, Eden shecheynne/TikTok (2) Cheyenne's daughter Eden getting a CT scan (left), Cheyenne learning a genetic ...

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% ...

She had been diagnosed with hypotonia, or muscle weakness. Cheyenne said: ‘We had a CT of Eden’s head because of her macrocephaly (larger head) and an EEG for suspected seizures. Both came ...