口腔の健康と歯の管理

概要

Phenotypic aspects of DMA in two patients with Laurence-Moon-Biedl syndrome

Marta Girdea, Dragos Totolici, Irina Totolici, Iuliana Dimofte, Corneliu Amariei

The variable manifestations of this syndrome were initially described by Laurence and Moon and the clinical phenotype was further delineated and popularized by Bardet and Bield in the 1920’s. We emphasized the major features of DMA which provide important insight into understanding the genotype-phenotype correlation in Laurence-Moon-Biedl syndrome. Genetic investigations were made in collaboration with the Department of Medical Genetics of the Faculty of Medicine, “Ovidius” University, Constanta.