During 10 years four patients with congenital hepatic fibrosis were seen in a general hospital in London; three presented in adult life. It is suggested that the condition may account for a larger proportion of patients with chronic liver disease than has been thought to be the case.

A family with congenital hepatic fibrosis (CHF) and congenital heart disease (CHD) is presented. The consanguineous healthy parents gave birth to 12 children of whom 10 survived. One son had CHF and CHD, one daughter had CHF and a second daughter had CHD. Three other siblings probably had small a ventricular septal defect and another one probably had mild pulmonary valve stenosis. Development o...

Congenital hepatic fibrosis is an exceedingly rare disease in China, where only very few cases with sufficient evidences and clinical data have been reported up to now. Here we reported a young patient, onset of hematemesis and melena, who had striking portal hypertension but without liver function damage. Computer tomography scans showed hepatosplenomegaly, intra-hepatic bile ducts dilation, t...

Congenital absence of the vas occurs in up to 1% of men. Congenital unilateral absence of the vas deferens can be related to cystic fibrosis transmembrane conductance regulator mutations or in 79% of cases, renal agenesis. We present a case of each, diagnosed in children at operation for elective inguinal hernia repairs. One patient had associated ipsilateral renal agenesis with a normal cystic...

BACKGROUND/AIMS Congenital fibrosis of the extraocular muscles (CFEOM) is an autosomal dominant, non-progressive disorder characterised by congenital ptosis and external ophthalmoplegia. CFEOM has previously been divided into several clinical entities; general fibrosis syndrome, strabismus fixus, vertical retraction syndrome, and congenital fibrosis of the inferior rectus. The purpose of this s...

Congenital hepatic fibrosis is an uncommon fibrocystic disorder affecting the intrahepatic bile ducts. It has autosomal recessive inheritance. The main consequence of this condition is portal hypertension and it is often misdiagnosed as cirrhosis. Patients with congenital hepatic fibrosis usually present during childhood or early adolescence with oesophageal variceal bleeding. Portosystemic shu...

ENDOCARDIAL FIBROSIS occurs in diverse diseases. An infantile form appears to reflect an unexplained congenital derangement in which a thick layer of collagen and elastin lines the left ventricular cavity.' Sporadic instances noted in the adolescent have also been presumed to be of congenital origin.2 A poorly understood cause of heart failure occurs frequently in Uganda and South Africa in ass...