ALLMedicine™ Stickler Syndrome Center

Apr 28th, 2022 - The aim is to determine the retinal changes in patients with Stickler syndrome caused by a p.R565C missense mutation of the COL2A1 gene. We reviewed the clinical records of 10 eyes of six patients from two families with the Stickler syndrome. The ...

Apr 7th, 2022 - Stickler syndrome (STL) is a genetic disease affecting several organs. However the major risk is represented by the development of retinal detachment (RD). Up to 80% of patients present a RD and 25% to 80% have sequential bilateral RD. The surgica...

Mar 5th, 2022 - Stickler syndrome (STL) is a rare, clinically and molecularly heterogeneous connective tissue disorder. Pathogenic variants occurring in a variety of genes cause STL, mainly inherited in an autosomal dominant fashion. Autosomal recessive STL is ul...

Jan 5th, 2022 - To report the impact of prophylactic laser retinopexy in the prevention of retinal detachments (RDs) in patients with Stickler syndrome. This was a retrospective, comparative case series of patients with Stickler syndrome from the year 2000 to 201...

Oct 22nd, 2021 - Pierre Robin sequence (PRS) is a heterogeneous condition involving retro(micro)gnathia, glossoptosis and upper airway obstruction, very often with posterior cleft palate. Patients with PRS, either isolated or associated with Stickler syndrome have...

Apr 7th, 2022 - Stickler syndrome (STL) is a genetic disease affecting several organs. However the major risk is represented by the development of retinal detachment (RD). Up to 80% of patients present a RD and 25% to 80% have sequential bilateral RD. The surgica...

Apr 13th, 2021 - From the anatomical and functional point of view, stomatognathic system and spine have close connections. Together with the complex neuromuscular relationships, this creates an important area of cooperation between dentists and orthopedics (1). Th...

Jun 9th, 2010 - Premature Arthritis Is a Distinct Type II Collagen Phenotype Kannu P, Bateman JF, Randle S, et al Arthritis Rheum. 2010;62:1421-1430 Introduction Osteoarthritis (OA) is extremely common, leading to significant morbidity. Some forms of OA are more ...