Experts highlight the role of primary care in identifying joint hypermobility syndrome and distinguishing it from connective tissue disorders.

Families underwent phenotyping for features of Noonan syndrome in children and their parents. Two multiplex families underwent linkage analysis. Exome, genome, or multigene panel sequencing was used ...

U.S.-based researchers examined the burden of imaging in a population of patients with ADPKD, versus that of patients with chronic kidney disease (CKD). People with ADPKD underwent more abdominal ...

Purpose We describe a mother and all her offspring with congenital superior oblique palsy (CSOP), and a father and all his sons with unilateral CSOP. We discuss the inheritance pattern in our ...

Von Willebrand’s disease is the most common inherited bleeding disorder and has an autosomal inheritance pattern. The disease is characterized mainly by mucosa-associated bleeding and bleeding after ...

Experts recently developed 23 consensus practice points/statements regarding the use of nephrectomy in autosomal dominant polycystic kidney disease (ADPKD). Regardless of when it was performed in ...

In a previous trial involving patients with early autosomal dominant polycystic kidney disease (ADPKD; estimated creatinine clearance, ≥60 ml per minute), the vasopressin V 2-receptor antagonist ...