The clinical presentation of optic nerve anomalies associated with renal hypodysplasia should alert the clinician to the possibility that a patient may have renal coloboma syndrome, a condition also known as papillorenal syndrome (OMIM#120330). The optic nerve findings could be described as a ‘dysplasia’, characterized by absent central vessels with the emergence of vessels from the periphery o...

In recent decades, many dams have been built or are under construction. Due to the high demand for water and soil erosion, increasing the need for dam construction in different regions are quite tangible. In 1900 the number of large dams, did not exceed 50. But in the 1950s to 1986 the number of large dams (over 15 meters), more than 39,000 were counted. The 70s dams has been increasing develop...

Recent reports have indicated the role of the prokineticin receptor 2 gene (PROKR2) in the etiology of congenital hypopituitarism, including septo-optic dysplasia and Kallmann syndrome. In the present study, using next-generation targeted sequencing, we identified a novel heterozygous PROKR2 variant (c.742C>T; p.R248W) in a female patient who had combined pituitary hormone deficiency (CPHD), mo...