morning glory syndrome (mgs) is a rare congenital optic disc anomaly characterized by a funnel-shaped, excavated optic disc surrounded by chorioretinal pigmentary disturbance. the main ophthalomoscopic feature of the mgs is enlarged optic disc with a funnel shaped scleral defect; elevated peripapillary chorioretinal pigmentation; and pale fluffy tissue of glial hyperplasia overlying the optic d...

Pentalogy of Cantrell is a rare congenital abnormality. Even with high-quality medical care and staged corrective surgeries in professional hospitals, the mortality rate still very high long-term prognosis poor. Survival largely determined by complexity severity cardiac abnormalities, efficiency abdominal wall closure postoperative complications. A 24-year-old male patient complete pentalogy wa...

Exercise 201Tl SPECT imaging has become routinely accepted and utilized as a major screening test for atherosclerotic coronary artery disease. In appropriate clinical situations, an abnormal 201Tl study usually will require a subsequent coronary angiogram to confirm the presence of an abnormality and to define its pathologic anatomy. Although most reversible thallium defects will prove to be se...

Examination of an infant born after prenatal diagnosis of mosaic partial trisomy 17q2 showed the unique phenotypic features of this chromosomal abnormality, that is, frontal bossing, large mouth, brachyrhizomelia, and hexadactyly. Amniocentesis was performed because of polyhydramnios and ultrasound diagnosis of fetal craniofacial dysmorphology and rhizomelic shortening of the limbs. Chromosomal...

Diphallia or penile duplication is a rare congenital abnormality thought to result from duplication of the cloacal membrane in the early developmental stages in the uterus. The present case concerned a 4-year old intact male German shepherd dog. The patient presented with a complaint of paraphimosis. Clinical, laboratory, radiological and ultrasonographic examinations were carried out. Semen sa...

The present study describes the cytogenetic findings in cases suspected with chromosomal abnormalities, in cases of mental retardation, multiple congenital malformations, clinical features of Down's syndrome, Klinefelter's syndrome, Turner's syndrome, ambiguous sex, sterility, amenorrhea and history of repeated spontaneous abortions in couples. Cytogenetic studies were done in 144 of the total ...

Developmental delay in child with deletion of chromosome 13. Chromosomal abnormalities are generally associated with multiple congenital malformations and mental retardation. Children with more than one physical abnormality, particularly if retarded, should therefore undergo chromosomal analysis as part of their investigation. Chromosomal disorders are incurable but can be reliably detected by ...

Bland-White-Garland syndrome refers to the rare congenital cardiac abnormality whereby the left coronary artery arises from the pulmonary artery. The natural history of this condition is highly variable, ranging from death in early infancy to asymptomatic adult survival. It is sometimes diagnosed in adults with mitral regurgitation thought to be of ischaemic origin. We report a case of a 29-yea...

Quadricuspid aortic valve (QAV) is a rare congenital aortic valve abnormality. It is less common as compared to bicuspid or unicuspid aortic valve abnormality. QAV causes aortic regurgitation usually in the fifth to sixth decade of life. We present a rare case of a female patient with cryptogenic stroke due to a QAV and a patent foramen ovale (PFO). The patient underwent transcatheter closure o...

Congenital heart disease (CHD), which affects 1% to 2% of all births, is the most common abnormality in women contemplating pregnancy western countries. With diagnostic and interventional advances, patients with CHD survive into adulthood require lifelong cardiac follow-up imaging, particularly echocardiography computed tomography. Multiple hemodynamic physiologic changes may predispose clinica...