Galactosialidosis is a rare autosomal recessive lysosomal storage disorder (LSD). It results from defects in glycoprotein degradation due to mutation single gene, encoded by the protective protein cathepsin A, (CTSA), located on chromosome 20q13.12. Most cases of non-immune hydrops fetalis (NIHF) nowadays being recognized are cardiac, lymphatic dysplasia, and hematological disorders. Inborn err...

Equinus, varus, cavus, and adduction are typical signs of congenital talipes equinovarus (CTEV). Forefoot adduction remains a difficulty from using previous corrective methods. This study aims to develop a corrective method to reduce the severity of forefoot adduction of CTEV children with moderate deformities during their walking age. The devised method was compared with 2 other common correct...

Introduction: Congenital Talipes Equinovarus (CTEV) is a common congenital foot deformity that is associated with long term disability. Treatment with Ponseti method has been successful especially for children who present early. We conducted this study to investigate the age of presentation of children and report the early outcome. Materials: This is a retrospective study from a single institut...

Idiopathic Congenital Talipes Equinovarus, or clubfoot, is a common developmental disorder of the foot, affecting at least 2 in every 1000 live births in Scotland. The defect is characterised by a twisting of the foot and loss of calf muscle. Diagnosis is usually made on postnatal examination and treatment; usually a series of foot manipulations, takes place within the first year. Treatment can...

BACKGROUND Idiopathic congenital talipes equinovarus (ICTEV) is a congenital limb deformity. Based on extended transmission disequilibrium testing, Gli-Kruppel family member 3 (Gli3) has been identified as a candidate gene for ICTEV. Here, we verify the role of Gli3 in ICTEV development. METHODS Using the rat ICTEV model, we analyzed the differences in Gli3 expression levels between model rat...

Freeman-Sheldon syndrome is a morphologically well-defined syndrome that results in a dysmorphic status combining bone anomalies and joint contractures with characteristic facies. FSS (FreemanSheldon Syndrome) is also known as craniocarpotarsal dysplasia (or dystrophy), distal arthrogryposis type IIA (DAIIA), whistling face syndrome, and whistling face-windmill vane hand syndrome. The syndrome ...

Idiopathic Congenital Talipes Equinovarus, or clubfoot, is a common developmental disorder of the foot, affecting at least 2 in every 1000 live births in Scotland. The defect is characterised by a twisting of the foot and loss of calf muscle. Diagnosis is usually made on postnatal examination and treatment; usually a series of foot manipulations, takes place within the first year. Treatment can...

Congenital Talipes Equinovarus (CTEV), or club foot, is a common congenital orthopaedic abnormality of the foot, which is easily diagnosed but difficult to treat perfectly. Controversy in terms of its etiology, classification and management continues to exist. Delayed initial treatment in patients with clubfoot has a strong correlation with a poor outcome. The purpose of this study was to revie...