Hemophilia A, B are X-linked recessive bleeding disorder that typically results from a deficiency of clotting factor VIII (FVIII) and IX (FIX). The severity the disease is determined according to FVIII FIX levels. A have similar symptoms both characterized by bleeding, particularly in large joints such as ankles, knees, elbows. Recurrent eventually causes progressive hemophilic arthropathy. Lif...

Congenital X-linked retinoschisis (CXLRS) is characterized by symmetric bilateral macular involvement, usually beginning in the first decade of life and affecting males. In fundus examination, a wheel pattern developing due to schisis areas observed macula. Fundus examination optical coherence tomography (OCT) are essential for diagnosis early stages disease exhibit characteristic findings. Per...

Objective(s): Jervell and Lange–Nielsen syndrome is an autosomal recessive disorder caused by mutations in KCNQ1 or KCNE1 genes. The disease is characterized by sensorineural hearing loss and long QT syndrome. Methods: Here we present a 3.5-year-old female patient, an offspring of consanguineous marriage, who had a history of recurrent syncope and congenital sensorineural deafness. The patient ...

Chronic Granulomatous Disease (CGD) is an inherited primary immunodeficiency disease which increases the body's susceptibility to infections caused by certain bacteria and fungi. CGD is a rare disease, caused by four genes, one type is 1X linked and the other three are "autosomal recessive". Although clinical presentation is variable, but characteristic features are recurrent pneumonia, lymphad...

INTRODUCTION Turner syndrome is a relatively common chromosomal disorder which affects about one in 2000 live born females. Duchenne muscular dystrophy is an X-linked recessive disorder affecting 1:3600 live born males. Considering the above, the coexistence of these two diseases may occur only anecdotally. CASE PRESENTATION Here, we report a 4 ½ year-old female with classical 45,X Turner syn...

Hypohidrotic (anhidrotic) ectodermal dysplasia (HED) is a congenital syndrome characterized by sparse hair, oligodontia, and reduced sweating. It is estimated to affect at least one in 17000 people worldwide. We report a rare case of HED in a 14-year-old male child patient which extraorally manifested as alopecia, scanty eyebrow and eye lashes, frontal bossing, depressed nasal bridge, and full ...

OBJECTIVE To present the clinical, genetic, biochemical, and molecular findings in two Chinese siblings with X-linked recessive Kallmann syndrome (KS). DESIGN Case report. SETTING University medical center. PATIENT(S) Two Chinese siblings. INTERVENTION(S) Clinical evaluation, hormone assays, and gene mutation research. MAIN OUTCOME MEASURE(S) Endocrinologic evaluation and genetic anal...

BACKGROUND Familial periventricular heterotopia (PH) represents a disorder of neuronal migration resulting in multiple gray matter nodules along the lateral ventricular walls. Prior studies have shown that mutations in the filamin A (FLNA) gene can cause PH through an X-linked dominant inheritance pattern. OBJECTIVE To classify cortical malformation syndromes associated with PH. METHODS Ana...

Heterogeneous loss of function mutations at F8 and F9 genes causes X-linked recessive bleeding disorders, hemophilia A (HA) and hemophilia B (HB), respectively. HA is clinically indistinguishable from HB and accounts for more than 80% of hemophilia cases; the former affects 1/5000 and the latter 1/25000 male births worldwide. In Iran, it is estimated that around 4300 HA and 900 HB patients are ...