Hermansky-Pudlak syndrome is a rare autosomal recessive disorder characterized by excessive bleeding post surgery. Here we reported such a case and reviewed the clinicopathological features and our current understanding of this rare congenital disorder.

Pachyonychia congenital (PC), is a rare genetic disorder, autosomal dominant, disorder of keratinization. This condition characterized by cutaneous manifestation mainly hyperkeratosis skin and mucosae hypertrophy nails. In this condition, almost 50% the patients will have oral leukokeratosis. The case report here 15 years old girl, presented with dystrophic, thickened fingernails toenails subun...

``Osteogenesis imperfecta'' and ``vitreous osteoporosis'' are genetic diseases in most of their cases, that is, it is sufficient for one the parents to be a disease carrier order have children suffering from it. It main protein source bone structure leading this disorder; however, factor common accounts about 80 85% causes osteogenesis imperfecta. The congenital disorder associated with defect ...

Congenital factor X deficiency is a rare autosomal recessive bleeding disorder that presents with variable bleeding tendency and prolonged coagulation tests, prothrombin time, and partial thromboplastin time. Thromboembolic events have not been reported in patients with factor X deficiency yet. Herein, we report a patient with factor X deficiency who had recurrent venous thromboembolic events.

Amniotic Band Syndrome is a sporadic congenital disorder that may result in constriction bands, amputation and multiple craniofacial, visceral and body wall defects. Its incidence is estimated at approximately 1:5000 to 1:10,000 pregnancies. Band formation most frequently affects the distal segments, including the hand. We report a case of constriction amniotic bands involving the trunk.

Congenital left atrial wall aneurysm is a rare disorder that occurs in wide range of age groups from infancy to adulthood. Here, we present case congenital was detected 19-year-old man who surgically treated. Although the patient asymptomatic without any pre-existing conditions, chest radiography performed as part routine health examination abnormalities heart. Contrast-enhanced computed tomogr...

Congenital hypothyroidism is the most common neonatal metabolic disorder and results in severe neurodevelopmental impairment and infertility if untreated. Congenital hypothyroidism is usually sporadic but up to 2% of thyroid dysgenesis is familial, and congenital hypothyroidism caused by organification defects is often recessively inherited. The candidate genes associated with this genetically ...

Neurocutaneous melanosis is a rare congenital disorder which presents with congenital cutaneous nevi and involvement of the central nervous system. We herein present a rare case of a 2-year-old girl who had central nervous system melanosis and giant congenital melanocytic nevi. Magnetic resonance imaging, especially precontrast T1 images play a crucial role in making the diagnosis combined with...

* Four cardiovascular abnormalities account for the great majority of reported cases of sudden cardiac death in young athletes: hypertrophic cardiomyopathy (a pathologically enlarged heart), congenital (inherited) abnormalities of the coronary arteries, dissecting aortic aneurysms (bulging of the aorta with blood passing between layers of the arterial wall) in athletes with Marfan syndrome (a c...