BACKGROUND The National Department of Health in South Africa (SA) routinely collects congenital disorder (CD) data for its national CD surveillance system. The current system has been implemented since 2006, but no reports on the data collected, methodology, achievements or challenges have been published to date. OBJECTIVES To ascertain the effectiveness of the current national CD surveillanc...

Background: Adequate surgical correction of congenital talipes equinovarus (CTEV) is a challenge to orthopedicians aiming to address all aspects of this complex foot deformity. Various exposures have been elucidated with varying results. This study discusses the Cincinnati approach advocated by McKay and whether it addresses the various aspects of clubfoot correction. Methods: Complete subtalar...

Congenital disorders of glycosylation (CDG) are a group of metabolic diseases resulting from defects in glycan synthesis or processing. The number of subgroups and their phenotypic spectrums continue to expand with most related to deficiencies of N-glycosylation. ALG9-CDG (previously CDG-IL) is the result of a mutation in ALG9. This gene encodes the enzyme alpha-1,2-mannosyltransferase. To date...

Background: Joshi’s external stabilizing system (JESS) is a useful option to correct the deformities in patients who present to the orthopedic department with neglected congenital talipes equinovarus, plaster of Paris drop out cases, or failed surgical procedures. Anteroposterior talocalcaneal angle, lateral talocalcaneal angle, and talocalcaneal index (TCI) are useful tools to assess the outco...

We studied 24 children (40 feet) to demonstrate that a physiotherapist-delivered Ponseti service is as successful as a medically-led programme in obtaining correction of an idiopathic congenital talipes equinovarus deformity. The median Pirani score at the start of treatment was 5.5 (mean 4.75; 2 to 6). A Pirani score of > or =5 predicted the need for tenotomy (p < 0.01). Of the 40 feet studied...

Arthrogryposis multiplex congenita is believed to be a specific clinical entity which is aetiologically unrelated to the "arthrogryposis-like" deformities of known neurological diseases such as myelomeningocele and myelodysplasia. The observation that the condition appeared to be three times as common in Melbourne, Australia, as in four centres in the United Kingdom (Wynne-Davies and Lloyd-Robe...

BACKGROUND The aim of this study was to evaluate the long-term outcome of a comprehensive surgical release for congenital talipes equinovarus (CTEV). METHODS Gait, strength, segmental foot motion, and outcomes questionnaire data were collected on 24 adults (21.8+/-2.3 y) who were surgically treated for CTEV as infants. These data were statistically compared with of 48-age group matched contro...

We report a 13-year-old girl with Loeys-Dietz syndrome (LDS) caused by a known transforming growth factor beta receptor II (TGFBR2) gene mutation, who developed aortic root dilatation and saccular aneurysm of the internal carotid artery. LDS is a rare, autosomal dominant aortic aneurysm syndrome with multisystem involvement. The disease is typically characterized by the triad of arterial tortuo...