The most frequent foetal chromosomal abnormalities involve the autosomes 21, 18, 13, and sex chromosomes X and Y. Aneuploidy or alterations in copy number of these chromosomes, including trisomy 21 (Down syndrome), trisomy 18 (Edwards’ syndrome), trisomy 13 (Patau’s syndrome), 45,X (Turner’s syndrome), and 47,XXY (Klinefelter’s syndrome) account for 80% of clinically significant chromosomal abn...

Pallister-Killian syndrome (PKS) is a sporadic multisystem genetic diagnosis characterized by facial dysmorphia, variable developmental delay and intellectual impairment, hypotonia, hearing loss, seizures, differences in skin pigmentation, temporal alopecia, diaphragmatic hernia, congenital heart defects, and other systemic abnormalities. Although congenital heart defects have been described in...

Patients with congenital central hypoventilation syndrome (CCHS) (Ondine's curse syndrome) have impaired autonomic control of ventilation with intact voluntary control of respiration. Autonomic dysfunction and cardiac abnormalities are common in CCHS. Bradyarrhythmias are life-threatening and often require pacemaker insertion. We presented a case of a patient with CCHS suffering from long sinus...

VACTERL association is a useful acronym for a condition characterised by the sporadic, non-random association of specific birth defects of multiple organ systems.We present one such case which had congenital abnormalities of renal,skeletal and cardiac system.

Background and Objectives: Congenital anomalies are also known as birth defects and congenital disorders. Congenital anomalies occur in about 3-7% of the newborn babies worldwide. The purpose of this study was to determine the incidence of congenital anomalies and their determinants in hospitals affiliated with Isfahan University of Medical Sciences in 1395. Methods: This cross-sectional stu...

Quadricuspid aortic valve is a rare congenital heart defect. The authors present a case of this anomaly in a young, asymptomatic adolescent who presented to the echocardiography laboratory for further evaluation of a cardiac murmur detected on routine physical examination. Imaging revealed a quadricuspid aortic valve with aortic regurgitation. This case highlights the importance of auscultation...

Survey of 27 cases in the literature and the authors' 3 cases reveals a characteristic syndrome of congenital absence of the spleen with certain cardiovascular and gastrointestinal abnormalities. The hematologic and other findings permit a presumptive antemortem diagnosis. More accurate prognosis is made possible and valuable information is afforded the cardiac surgeon, since the cardiac anomal...

abstract horseshoe lung is a congenital pulmonary malformation that is usually associated with scimitar syndrome. this malformation consists of fusion of both pulmonary lobes from the posterobasal segments. the fusion appears in the retrocardiac area, in front of the esophagus and thoracic aorta. pleural separation of pulmonary lobes distinguishes pseudohorseshoe appearance from a true horsesho...