A gravid middle-aged woman viewed on ultrasound demonstrated a viable anencephalic fetus at 25 weeks gestational age. The absence of the bilateral cerebral hemisphere, cranial vault, anhydramnios, abdominal ascites, and phaco-rhizomelia was discovered. We discuss evidence-based quadra –amelia in non-consanguineous (negroid) couple 25-week prenatal scan. Apart from amelia all four limbs, had asc...

Dental agenesis is a commonly encountered dental anomaly that affects more than 20% of the human population. It can be categorized as hypodontia, oligodontia, or anodontia. Oligodontia occur either an isolated finding part syndrome, and causative factor environmental genetic. : This report describes three cases isolated, non-syndromic tooth with single/ multiple missing permanent teeth. No othe...

PURPOSE Leber congenital amaurosis (LCA) and juvenile retinitis pigmentosa (RP) cause severe visual impairment early in life. Thus far, mutations in 13 genes have been associated with autosomal recessive LCA and juvenile RP. The purpose of this study was to use homozygosity mapping to identify mutations in known LCA and juvenile RP genes. METHODS The genomes of 93 consanguineous and nonconsan...

It has been known for a long time that patients suffering from rare diseases following a recessive mode of inheritance are, in a high proportion of cases, offspring of marriages between related partners who themselves are healthy. In such cases varying percentages of 'consanguineous marriages' have been reported. Such figures are useful as a general orientation. The great differences found betw...

At least one of every five marriages is consanguineous (between couples who are second cousins or closer) in the Middle East and North Africa, rate higher than 50 percent some parts world. Consanguineous marriage generates serious health problems for offspring constitutes an economic problem with its associated medical costs impact on human capital. The prevalence resultant kinship networks can...

BACKGROUND Neural tube defects (NTD) are one of the leading causes of infant mortality worldwide. This study was designed to determine the prevalence of NTDs among native Fars ethnic groups during 1998-2005, and to identify maternal and demographic factors associated with NTDs. METHODS We performed a descriptive cross-sectional hospital-based study in Dezyani Hospital, Gorgan, North of Iran, ...

Lipoid proteinosis (LP) is a rare autosomal recessive genodermatosis characterized by the accumulation of an amorphous hyaline material in various regions body, including skin, mucous membranes, brain, internal organs. LP caused mutations gene encoding extracellular matrix protein 1 (ECM1) found on chromosome 1q21. Although this disease rare, it more reported areas where consanguineous marriage...