Background: VACTERL association is usually a sporadic disorder, the possible etiologies of which have been proposed as familial as well as multiple genetic and environmental factors. VACTERL association usually consists of at least three of the core features of vertebral defects, anal atresia, cardiac defects, tracheoesophageal fistula, renal anomalies, and limb abnormalities. Vertebral anomali...

Mice homozygous for the recessive limb deformity (ld) mutation display both limb and renal defects. The limb defects, oligodactyly and syndactyly, have been traced to improper differentiation of the apical ectodermal ridge (AER) and shortening of the anteroposterior limb axis. The renal defects, usually aplasia, are thought to result from failure of ureteric bud outgrowth. Since the ld locus gi...

normal 0 false false false en-us x-none ar-sa approximately 1% of all pregnancies are in woman with epilepsy. although, the majority of children born to women with epilepsy are normal, they are at increased risk for malformations. notably, the teratogenicity of antiepileptic drugs is a well-defined subject. the incidence of major malformations in offspring of mothers with epilepsy who were trea...

A female infant with Cornelia de Lange syndrome and severe limb reduction defects is described. Chromosome analysis showed a de novo translocation with breakpoints at 3q26.3 and 17q23.1. This is the first reported case of a de novo translocation associated with this syndrome.

OBJECTIVE An analysis of birth defects incidence in offspring of mothers taking 1st trimester medication in the Czech Republic in 1996-2004. TYPE OF STUDY A retrospective demographical-epidemiological analysis of data from a National Register of Congenital Anomalies of the Czech Republic. METHODOLOGY Data on birth defects in the Czech Republic from the Institute of Health Information and St...

OBJECTIVE To investigate whether amniocentesis and chorionic villus sampling increase the risk of postural deformities, limb reduction defects, respiratory problems in the newborn, fetal and infant mortality, prematurity, low birthweight and fetal distress, and to investigate the impact of gestational length at the time of the procedure. DESIGN A population-based cohort study. SETTING Swede...

BACKGROUND Reconstruction of soft tissue defects in the lower third of the leg remains challenging. Anatomical constraints limit the local options available for complex defects especially lower third of leg. Local flaps based on perforator vessels are raising interest in reconstructive surgery of the limbs. We present our experience with perforator flaps for reconstruction of soft tissue def...