Renal Dysplasia-Limb Defects Syndrome (RL Syndrome)
摘要
Renal dysplasia-limb defects syndrome (RL syndrome), known as Ulbright–Hodes syndrome, is a rare congenital genetic syndrome, which was primarily described by Constance Schrander-Stumpel in 1990 among two male and female siblings (Schrander-Stumpel et al. 1990). Before that, Corinne E. Ulbright had reported a male neonate with mesomelia, radiohumeral fusion, and renal dysplasia which was named as “new syndrome” (Ulbright et al. 1984). RL syndrome is mostly presented with musculoskeletal and urogenital features (Schrander-Stumpel et al. 1990). It is a very rare disorder with estimated prevalence of less than one per million which is most commonly presented in newborns (Rathod et al. 2015).