ABSTRACT
Whole exome sequencing detected novel likely pathogenic variants in LRP2 gene in 2 patients presenting with hearing and vision loss, and the Dent disease (DD) classical renal phenotype, that is, low molecular weight proteinuria (LMWP), hypercalciuria and nephrocalcinosis/nephrolithiasis. We propose that a subset of patients presenting as DD may represent unrecognized cases or mild forms of Donnai-Barrow/facio-oculo-acustico-renal (DB/FOAR) syndrome or be on the phenotypic continuum between the 2 conditions.
Subject(s)
Agenesis of Corpus Callosum/diagnosis , Hearing Loss, Sensorineural/diagnosis , Hernias, Diaphragmatic, Congenital/diagnosis , Hypercalciuria/diagnosis , Myopia/diagnosis , Nephrolithiasis/diagnosis , Phenotype , Proteinuria/diagnosis , Renal Tubular Transport, Inborn Errors/diagnosis , Adolescent , Aged , Agenesis of Corpus Callosum/genetics , Alleles , Diagnosis, Differential , Genetic Association Studies , Genetic Predisposition to Disease , Hearing Loss, Sensorineural/genetics , Hernias, Diaphragmatic, Congenital/genetics , Humans , Hypercalciuria/genetics , Low Density Lipoprotein Receptor-Related Protein-2/genetics , Male , Myopia/genetics , Nephrolithiasis/genetics , Proteinuria/genetics , Renal Tubular Transport, Inborn Errors/geneticsABSTRACT
The authors present a case of fracture dislocation of the ankle with the fibula entrapped behind the tibia--Bosworth's fracture. It is often unrecognized as such because it is so rare and because radiographs are not correctly interpreted. A stable reduction can be obtained by closed treatment when promptly recognized.
