Methods A 31-year-old primigravid woman presented with a twin pregnancy at 14 weeks of gestation for evaluation of structural abnormalities in one co-twin. The marriage was non consanguineous. There was not history of genetic disorders or structural anomalies noted in the both parents. This was her first pregnancy and it was achieved by in vitro fertilization (ivf) and embryo transfer. One embr...

Pentalogy of Cantrell is a rare syndrome that is characterized by varying degrees of midline wall defects and congenital cardiac anomalies. A left ventricular diverticulum (LVD) is defined as partial ectopia cordis, can be part of the pentalogy of Cantrell, and can put the patient at risk of severe complications. Early diagnosis and ligation/resection of the LVD is important to prevent complica...

OBJECTIVE To investigate the genetic basis and molecular characteristics of the isolated form of ectopia lentis. METHODS We ascertained a consanguineous Pakistani family with multiple individuals with ectopia lentis. All affected as well as unaffected members with isolated ectopia lentis underwent detailed ophthalmologic and medical examination. Blood samples were collected and DNA was extrac...

BACKGROUND Marfan syndrome (MFS), inherited as an autosomal dominant trait, typically affects the cardiovascular, skeletal, and ocular systems. Ectopia lentis (EL) is a clinical manifestation of MFS, with stretching or disruption of the lenticular zonular filaments, leading to displacement of the lenses. EL, with or without minor skeletal changes, exists as an independent autosomal dominant phe...

The clinical suspicion of myocarditis relies strongly on endomyocardial biopsy for confirmation, yet the sensitivity of the procedure in this setting has not been clearly defined. Biopsy sensitivity was determined in 14 hearts with histologically proved myocarditis studied ex vivo, including 12 autopsy hearts and 2 native hearts explanted at cardiac transplantation. With use of the Stanford and...

Pentalogy of Cantrell (PC) is a congenital anomaly characterized by a defect in the lower sternum, anterior diaphragm, and anterior abdominal wall; ectopia cordis; and congenital heart disease. It is a very rare congenital anomaly and the prenatal diagnosis is possible in the beginning of second trimester of pregnancy using the conventional ultrasonography. The prognosis is poor with high rates...

BACKGROUND Ocular trauma and acute loss of vision are high-yield patient presentations that may benefit from the use of bedside ultrasound to aid in the diagnosis of a variety of vision-threatening problems. CASE REPORT We present a case of bilateral lens dislocation in which the diagnosis of lens dislocation was missed on initial computed tomography of the orbits but detected on bedside ultr...

In recent years, there has been a proliferation of techniques utilizing the ansa cervicalis nerve to reinnervate the paralyzed larynx. The anatomic course and morphology of the ansa cervicalis are complicated by the variable course and location along the great vessels of the neck, as well as the significant differences observed in the arrangement of its contributing roots and regional branching...