There is the impression that congenital malformations are more prevalent in populations with a high intermarriage rate, including Saudi Arabia. Although some studies have been reported from other parts of the country 1-6 or neighboring countries, none has specifically addressed the population of the Al-Hasa area in the Eastern Province, where consanguineous marriages are very common, nor specif...

Primary immunodeficiencies (PIDs) are a heterogeneous group of genetic disorders caused by defects in the immune system that predispose patients to infections, autoimmune diseases, lymphoproliferation and malignancies. Most PIDs are inherited in an autosomal recessive pattern; therefore, they are more common in areas with high rates of consanguineous marriage. Reports about PIDs from these area...

background it seems that there is a relationship between consanguinity and profound hearing loss but there is little data about the association of consanguinity and hearing loss in iran. objectives the aim of this study is to demonstrate the causes of profound bilateral sensorineural hearing loss among iranian samples who are candidates for cochlear implantation. methods this study was retrospe...

Received 25 July 1996 Revised version accepted for publication 2 July 1997 Abstract Intrafamilial marriage is favoured by the Arab community in Israel, almost all of whom live in villages populated by a few (<20) founding families. A previous study in Taibe, a large Arab village located 30 km from Tel Aviv, showed a significantly high malformation rate among infants of consanguineous parents. T...

Though the familial occurrence of virilization associated with hyperplasia of the adrenal cortex has long been established, there have been only two reports of the familial aggregation of virilizing adrenal carcinoma. It is the purpose of the present communication to describe a family in which 2 sibs, who were products of a consanguineous marriage, had virilizing tumours ofthe adrenal cortex pr...

We report a Tunisian patient born from consanguineous marriage affected with progressive myoclonus epilepsy and cognitive decline, consistent with the diagnosis of Lafora disease. Genetic analysis showed a novel c.659 T>A mutation on exon 3 of the EPM2A gene, converting a leucine to a glutamine residue at amino acid position 220 (p.Leu220Gln), in the dual-specificity phosphatase domain.

Marfan's syndrome has diverse manifestations that overlap with those seen in other connective tissue disorders. Visceral diverticula have been described only once in four adults with marfanoid features of recessive inheritance. Two siblings of a consanguineous marriage with marfanoid features, visceral diverticula, and diaphragmatic eventration are reported.

The sister also has alkaptonuria (fig 2; see p 491). Alkaptonuria is an autosomal recessive disorder. Siblings are more likely to suffer from the condition than parents or offspring. Usually there is a history of consanguineous marriage in the parents of affected offspring. However, the parents of the brother and sister reported here were unrelated to each other before marriage and hailed from ...

Primary hypogonadism combined with Müllerian hypoplasia and partial alopecia are common features of this syndrome, which was reported only in four earlier families from areas where consanguineous marriage is prevalent. An autosomal recessive pattern of inheritance was suggested earlier and is supported by this report.

Laurence Moon Bardet Biedl Syndrome is a rare genetic disorder. Consanguineous marriage is usually the common cause. Principal features of Bardet Biedl Syndrome are red cone dystrophy, obesity, polydactyl, hypogonadism and renal anomalies. The diagnosis was overlooked in our patient until he came in our hospital. We here report an infrequent case of autosomal recessive disorder with Anaemia.