Jamie Talan11:08, May 02 2021
In 1974, when Robert Shprintzen was a young speech pathologist at Montefiore Medical Centre in New York, he was introduced to a dozen children with similar presentations: cleft palates, heart problems, immune disorders and developmental delays that would ultimately lead to learning disabilities. He published a paper describing this new syndrome.
Other scientists had chronicled children with identical features - DiGeorge syndrome, for instance - but ultimately it was agreed that they were talking about the same syndrome and kids. They called it velocardiofacial syndrome, or VCFS.
Brett Jordan/Unsplash
A US speech pathologist found a rare genetic condition was behind a diagnosis of childhood schizophrenia.