Alport syndrome is an inherited disease characterized by progressive renal failure, hearing loss, and ocular abnormalities. Inheritance is X-linked (85%) or autosomal recessive (15%). Many renal physicians think of Alport syndrome as primarily affecting men. However, twice as many women are affected by the X-linked diseases. Affected women are commonly undiagnosed, but 15%-30% develop renal fai...

Heiko Traupe, Universitäts-Hautklinik, Von-Esmarch-Strasse 56, D–4400 Münster (FRG); Rudolf Happle, Department of Dermatology, University of Nijmegen, Javastraat 104, NL-6524 Nijmegen (The Netherlands) Sir, The data of Unamuno et al. [8] on the high incidence of cryptorchidism in X-linked recessive ichthyosis are of considerable interest, in particular to those concerned with pediatric dermatol...

We report a pedigree in which six males died of cardiac failure within the first eight months of life. These males were related through healthy females, as with X linked recessive inheritance. There was no consanguinity. None of the affected boys had an anatomical cardiac abnormality. In two affected brothers, histological evidence for endomyocardial fibroelastosis was documented, and in one of...

Background Duchenne Muscular Dystrophy (DMD) is a deadly X-linked recessive disorder. This genetic disorder affects 1 among 3,500-5,000 males in the world. The majority of the patients are male, due to the type of inheritance. It affects most of the skeletal, the respiratory, and cardiac muscles, causing these vital organs to contract and eventually mortality.<br...

Non-syndromic mental retardation is one of the most serious neurodevelopmental disorders, which has a serious impact not only on the affected individuals and their families but also on the health care system and society. Previously research has been more focused on the X-linked mental retardation and only recently studies have shown that non-syndromic autosomal recessive mental retardation is e...