OBJECTIVE To determine the pathogenesis of a patient born with congenital heart defects, who had appeared normal in prenatal screening. METHODS In routine prenatal screening, G-banding was performed to analyse the karyotypes of the family and fluorescence in situ hybridization was used to investigate the 22q11.2 deletion in the fetus. After birth, the child was found to be suffering from hear...

PURPOSE Primary congenital glaucoma (PCG) is the second most common cause of blindness, accounting for 0.01%-0.04% of total blindness worldwide. Most congenital glaucoma cases are mapped to the GLC3A locus, and many aspects of PCG are still unknown. Recent studies have reported an increased frequency of mitochondrial DNA (mtDNA) sequence changes in primary open-angle glaucoma, primary angle-clo...

Musculocutaneous pedicled/free flaps are an essential prerequisite for reconstructive surgery. Amongst the trunk muscles commonly harvested for flaps, the trapezius and rectus abdominis provide satisfactory coverage for cranial and trunk defects. unilateral/bilateral or partial congenital absence of trapezius muscle is well documented and may result in muscular imbalances compromising posture a...

A scotopic electroretinogram with an a-wave amplitude larger than the b-wave amplitude traditionally is termed 'negative'. Six male patients with negative photopic electroretinograms were examined; three of them suffered from progressive cone dystrophy, in which negative electroretinograms are unusual. Another patient without symptoms was the brother of a patient with cone dystrophy. These pati...

Congenital defects are those abnormalities present at birth that result from errors arising during development (Noden and de la Hunta, 1985). Congenital duplications are interesting among congenital defects because they are composed by two individuals. Multiple births most frequently result from fertilization of separately ovulated female gametes. However, complete or partial separation of clea...

Coronary arteriography is routinely used as a diagnostic measure or as a prelude to surgical treatment. Failure to visualise a coronary artery division is relatively frequent and generally attributable to a complete proximal occlusion, even if no stump of blocked artery is demonstrated. Failure to intubate a coronary artery is usually the result of inadequate technique. Both of these failures m...

PURPOSE To identify the disease-causing mutations in three consanguineous Pakistani families with multiple members affected by primary congenital glaucoma. METHODS Blood samples were collected, and DNA was extracted. Linkage analysis for reported primary congenital glaucoma loci was performed using closely spaced polymorphic microsatellite markers on genomic DNA from affected and unaffected f...

Introduction Isolated congenital absence of the left atrial appendage (LAA) is a rare condition. The diagnosis results from a review of the past medical and surgical history in addition to the use of multimodality imaging, as several other conditions (thrombotic occlusion, surgical or percutaneous exclusion, variations in morphology and relative position of anatomic structures) may present with...

The oculocerebrorenal syndrome of Lowe (OCRL) is an X-linked disorder characterized by congenital cataracts, renal tubular dysfunction, cognitive problems and maladaptive behavior. The syndrome is caused by pathogenic DNA variations in the X-linked OCRL1 gene. A 24-month-old boy was referred to our hospital with delayed motor milestones, hypotonia, involuntary purposeless movements of hands and...

Congenital heart disease is the leading cause of birth defect worldwide. Genetic mutation is a major contributor to certain types of congenital heart diseases, such as Tuberous sclerosis (TSC) and Marfan syndrome. Here I introduce a feasible pipeline for prenatal diagnosis of congenital heart diseases. Patients are enrolled due to either familial history of genetic mutation or abnormality durin...