background: hemophilia b is an x-linked recessive coagulation disorder caused by factor ix deficiency.  analysis of factor ix gene polymorphisms is considered the best approach for prenatal diagnosis and carrier detection of hemophilia b where the identification of gene mutation is not easily possible.   objective: to study the frequency of three factor ix-linked restriction fragment length pol...

Incontinentia pigmenti is a very rare X-linked dominant inherited disease characterized by skin lesions, retinal pathologies, central nervous system anomalies, and dental problems. Norrie recessive severe vitreoretinal dysplasia in both eyes at birth. In diseases, patients can apply to the clinic with nystagmus, leukocoria, microphthalmia, detachment an early age. this review, disease, which ar...

Duchenne’s muscular dystrophy is the most common hereditary neuromuscular disease, which affects all races. Its classical characteristic clinical features being progressive weakness, intellectual impairment and hypertrophy of calves with proliferation connective tissue fibrosis in muscles. As disease inherited as an X-linked recessive trait, thus females not manifesting acting carriers only, se...

Two male cousins developed symptoms and signs of Addison's disease at age 3 weeks. The family history indicates that their disorder is inherited as an X-linked recessive.

Cutis laxa (CL) is a rare connective tissue disorder characterized by phenotypic appearance of loose and redundant skin. CL can be congenital or acquired. Congenital forms include autosomal dominant, autosomal recessive and X-linked recessive. Apart from cutaneous abnormalities, CL can present with visceral involvement. In this article, we report a case of CL presenting as recurrent ileus.

We clinically evaluated 338 patients with various genetic types of retinitis pigmentosa (RP) for the presence of posterior subscapsular (PSC) lens opacities. Of these, 180 (53%) had PSC lens changes or were bilaterally aphakic. Patients with X-linked recessive RP showed a greater prevalence and patients with autosomal dominant RP a lesser prevalence of PSC lens changes compared with autosomal r...

Autosomal recessive hereditary ectodermal dysplasia (HED) has not been described in sub-Saharan Africa. It is acknowledged to be rarer than the occasionally reported x-linked and autosomal dominant variants. We report a pair of Nigerian female twins with family history and clinical features suggestive of recessive HED, thereby showing the existence of this rare form in sub-Saharan Africa.