RESUMO
Williams syndrome, also known as Williams-Beuren syndrome (OMIM database entry 194050), is now known to be commonly associated with a hemizygous chromosomal deletion at 7.q11.23. The way in which the condition came to be recognized historically is reviewed along with some biographical details of the people involved.
Assuntos
Diagnóstico por Imagem/história , Exame Físico/história , Síndrome de Williams/história , Alemanha , História do Século XX , História do Século XXI , Humanos , Nova ZelândiaRESUMO
John C.P. Williams of New Zealand, whose name is associated with Williams-Beuren syndrome, spent his known professional career primarily in cardiovascular research. His disappearance in the mid-1970s and his later life remain a mystery.
Assuntos
Cardiologia/história , Síndrome de Williams/história , História do Século XX , Humanos , Nova Zelândia , Estados UnidosRESUMO
Paediatrics as a specialty was slow to emerge in New Zealand where Geoffrey Bruton Sweet was a pioneer full-time paediatrician from 1907 to 1939. Although there had been appointments as paediatric lecturers to the Otago Medical School, the early appointees were not restricted to paediatric practice. Dr Sweet, an Australian graduate, came to New Zealand and made a major contribution to the development of pathology services before embarking on a career devoted to paediatrics. He was a powerful advocate for children, well read and interested in clinical research, and realised the need to communicate with those directly involved in the care of children. For New Zealand, he was a man ahead of his time.