Freeman-Sheldon Syndrome with Stiff Knee Gait - A Case Report.

ABSTRACT:

Introduction

Freeman-Sheldon syndrome (FSS), also known as the distal arthrogryposis (DA) type 2A, is a rare congenital anomaly. We report a unique case of the DA type 2A with mixed clinical features and the unusual presentation of bilateral congenital dislocation of the knee but had unassisted stiff knee gait.

Case report

A 5-year-old female child presented to the clinic with the complaint of inability to bend both knees since birth. She had an unassisted bipedal gait, but could not squat, cross-leg sit, run, and climb stairs without assistance. Her youngest brother had a similar presentation but succumbed to death at the age of 5 months due to respiratory distress. Clinical features were in the favor of FSS. Her serum creatinine kinase level was normal and the electromyogr

SUBMITTER: Sehrawat S 

PROVIDER: S-EPMC8930336 | biostudies-literature | 2021 Nov

REPOSITORIES: biostudies-literature