Caroli's syndrome is characterized by bile duct ectasia in association with hepatic fibrosis. It is usually transmitted in an autosomal recessive fashion and has been well documented to be associated with autosomal recessive polycystic kidney disease and occasionally with autosomal dominant polycystic kidney disease. However, there has been only few case reports published with Caroli's syndrome...

      Schimke immune-osseous dysplasia (SIOD) is a rare autosomal recessive disorder presented with specific facial features, skeletal dysplasia, steroid resistance nephrotic syndrome (SRNS) and cellular immune insufficiency. This is a SIOD case reported from Iran. He was 5 years old boy when evaluated for proteinuria and short stature. In appearance, we detected hyperpigmented macules, kyphosc...

Absence or hypoplasia of the tibia has been reported to occur as an isolated hereditary malformation as well as a feature of several autosomal recessive and autosomal dominant syndromes. We report three sibs with absence or hypoplasia of the tibia in association with other malformations whose parents are first cousins once removed. These infants appear to have a "new" autosomal recessive syndrome.

This paper discusses the difficult problem that arises when information is sought by female relatives of two or more brothers, each of whom has an identical but undiagnosed or 'new' syndrome, which is likely to be either autosomal recessive or sex linked recessive in inheritance. It is proposed that standard Bayesian methods may be applied in this situation thus incorporating the prior probabil...