Introduction: Dentin dysplasia is a rare autosomal dominant inheriting disturbance of dentin formation characterized by normal enamel formation, but atypical dentin with abnormal pulpal morphology. There are two major patterns: type I and type II. Amelogenesis imperfecta is an autosomal dominant. X-link inherent disease that is classified by clinical manifestation into hypoplastic, hyp...

ellis-van creveld syndrome is a very rare autosomal recessive skeletal dysplasia characterized by a short stature, short limbs, short ribs, postaxial polydactyly, dysplastic nails, multiple frenula, and congenital heart defects.  we describe a 22-year-old boy with a short stature, short limbs, short distal extremities, small teeth, short upper lip bound by frenula to the alveolar ridge, multipl...

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...

For the first time in 1946 E.L. Potter (1901–1993) described characteristic appearance of stillborns and deceased newborns with bilateral renal agenesis. Due to further observations distinguished syndrome (Q60.6) – a set external signs that are formed due extreme degree oligohydramnios intrauterine compression fetus. Classical is diagnosed by disfunction both kidneys fetus (for example, agenesi...