in the rare hereditary bone disorder of osteopetrosis, reduced bone resorption function leads to both the development of densely sclerotic fragile bones and progressive obliteration of the marrow spaces and cranial foramina. marrow obliteration, typically associated with extramedullary hemopoiesis and hepatosplenomegaly, results in anemia and thrombocytopenia and nerve entrapment accounts for p...

The material of this study consists 3701 newborns in the neonatology section, Maternity Hassan II Hospital, Agadir, Morocco from April 2016 to 2018. For each newborn, several variables were recorded (birth weight, sex, consanguinity, gestational age, economic and social situation parents, etc.). They types birth defects have been classified according International Classification Diseases (ICD-1...

This study was conducted on 3212 Saudi families to investigate the prevalence of consanguineous marriages. The families were interviewed and the information on the relationship between the husband and wife was obtained. The overall rate of consanguinity shows that 57.7% of the families screened were consanguineous. The most frequent were first cousin marriages (28.4%) followed by distant relati...

In this work the level and structure of consanguinity is analysed in two Spanish rural regions of similar geographic and orographic characteristics for the period between 1880 and 1979, employing two different methodologies. The estimates according dispensations shows that the total levels (alpha4 = 0.00552 in La Cabrera and 0.00405 in Fuentes Carrionas) and the structures of consanguinity (C22...

Consanguineous unions have been associated with an increased susceptibility to various forms of inherited disease. Although consanguinity is known to contribute to recessive diseases, the potential role of consanguinity in certain common birth defects is less clear, particularly since the disease pathophysiology may involve genetic and environmental/epigenetic factors. In this study, we ask whe...

Background: The high consanguinity in Middle East increases the risk of genetic diseases, including primary immunodeficiency diseases (PID). Objectives: This study was aimed at determining the rate of positive family history of PID, the overall rate and type of consanguinity, and their effects on delay age during diagnosis of PID. Materials and methods: A retrospective analysis was conducted on...

Consanguineous marriages constitute a significant fraction of marriages worldwide and confer a major public health concern on newborns. In addition to the risk of acquiring a recessive genetic disease, the offspring of consanguineous parents are plausibly at an increased risk of preterm birth, decreased anthropometric measurements, congenital defects and mortality. How consanguinity confers suc...