RESUMO
Two sibs with a phenotype characterised by short stature, brachydactyly, and ocular anomalies (Peters' anomaly) are reported (Peters'-plus syndrome). The consanguinity is in agreement with the proposed autosomal recessive inheritance.
Assuntos
Córnea/anormalidades , Genes Recessivos , Transtornos do Crescimento/genética , Pré-Escolar , Consanguinidade , Feminino , Humanos , Lactente , Masculino , Fenótipo , SíndromeRESUMO
Francisco Hoffmann MD became a Professor of Physiology at the University of Chile School of Medicine in 1934. After postgraduate studies in Germany he came back to Chile in 1931 when he began proposing the creation of an Institute of Physiology. This became a reality in 1936. He was a proponent of full time job and of greater participation of students in the learning process. The main research interest of the Institute was centered on thyroid function and its relation to the nervous and circulatory systems. Professor Hoffmann was made a corresponding member of the Royal and the Spanish Academies of Medicine. In 1960 he retired from the Institute to help develop an Anthropology Center leaving many of his disciples to continue his work in physiology.