The double pylorus is an uncommon finding and maybe congenital due to gastrointestinal duplication abnormality or more commonly secondary to peptic ulcer disease. The case we present is an elderly patient with mild dyspeptic symptoms who had an upper endoscopy as part of her investigative workup. The congenital double pylorus, being asymptomatic, may often go undetected. It is sometimes found i...

A retrospective review of 34 patients with congenital dislocation of the radial head was carried out. In 22 patients, the radial head dislocation was the only abnormality. The range of motion of the elbow and forearm was considerably limited in some patients and did cause functional impairment, especially lack of supination. Increased ulnar length in relation to the radius and a hypoplastic cap...

Congenital cataracts are a common major abnormality of the eye that frequently cause blindness in infants. At least a third of all cases are familial; autosomal dominant congenital cataract (ADCC) appears to be the most common familial form in the Western world. We have mapped an ADCC gene in family ADCC-2 to chromosome 21q22.3 near the alpha-crystallin gene CRYAA. By sequencing the coding regi...

Objective To examine the incidence and phenotypes of congenital heart disease (CHD) in a large cohort patients with Hirschsprung's (HSCR). Study design Retrospective data review children HSCR between 2003 2020 was conducted at Provincial Key Laboratory for Structural Birth Defects Guangzhou, Guangdong, China. confirmed by pathological diagnosis. CHD defined as gross structural abnormality or in...

Perinatal deaths and major lethal and non-lethal congenital malformations occurring in this hospital from 1979-82 inclusive were related to the ethnic group of the 15 438 mothers. The highest crude perinatal mortality rates occurred in Indian and Pakistani populations (18.3 per 1000 and 24.1 per 1000 respectively). The highest incidence of congenital abnormality also occurred in these groups (1...

Armendares, S., Buentello, L., Salamanca, F., and Cantu-Garza, J. M. (1972). A dicentric Y chromosome without evidence of sex chromosomal mosaicism, 46,XYqdic, in a patient with features of Turner's syndrome. Journal of Medical Genetics, 9, 96-100. Caspersson, T., Lomakka, G., and Zech, L. (1971). The 24 fluorescence patterns of the human metaphase chromosomes-distinguishing characters and vari...

two inches above the pubis. This was prominent and about half an inch thick with the patient standing but was barely noticeable with the patient in an horizontal position. In the latter position the arch could be felt as a groove. The flow of the blood was from the right to the left side of the body. When pressure sufficient to stop the flow of the blood was applied to the middle of the arch th...

An asymptomatic 8-week-old male infant was referred for assessment. A prenatal ultrasound had been suggestive of a congenital cystic adenomatoid malformation (CCAM). Following delivery, he had a plain chest radiograph (fig. 1) and went on to have a computed tomography (CT) scan of the thorax (fig. 2), which showed an extrapulmonary mass close to the vertebral column. He proceeded to have magnet...

A 33-year-old woman at 23 weeks of gestational age was referred for consultation due to the findings of a cyst in the right lung of the fetus. Prenatal ultrasound showed a 3 cm-sized hypoechogenic cyst, suggesting congenital cystic adenomatoid malformation. As the cyst grew and compressed the heart, serial cyst aspirations were performed. The cyst was proved to be congenital lobar emphysema on ...

Background Ebstein’s anomaly is a rare congenital heart disorder (1 per 200,000 live births), accounting for about 0.3 to 0.7% of all cases of congenital heart disease. The condition is characterized by tricuspid valve abnormality with apical displacement of the septal and posterior leaflets from the atrioventricular annulus into the right ventricle, leading to the ‘atrialization’ of a portion ...