Roberts syndrome, which is inherited as an autosomal recessive group of disorders, is a rare syndrome characterized with symmetrical extremity defects, craniofacial abnormalities, and prenatal and postnatal growth retardation. Here, we present a case of Roberts Syndrome brought to the clinic with diarrhoea and multiple abnormalities, that had tetra phocomelia, growth and developmental retardati...

Epidermolysis bullosa is a group of inherited rare skin disease, characterized by bullae formation in the skin or mucous membranes. The fundamental abnormality is collagen degeneration leads to splitting of various epidermal layers. Dystrophic epidermolysis bullosa (DEB) is one of the major forms of epidermolysis bullosa. These patients often admitted to the hospital for corrective surgeries, c...

Insulin resistance is a major player in the pathogenesis of the metabolic syndrome and type 2 diabetes, and yet, the mechanisms responsible for it remain poorly understood. Magnetic resonance spectroscopy studies in humans suggest that a defect in insulin-stimulated glucose transport in skeletal muscle is the primary metabolic abnormality in insulin-resistant type 2 diabetics. Fatty acids appea...

OBJECTIVES To define the mode of inheritance of the dorsal ridge and investigate if the ridge predisposes to the congenital abnormality dermoid sinus in the Rhodesian ridgeback. METHODS Segregation analysis was performed, including 87 litters (n=803) produced in Sweden between 1981 and 2002. Data were corrected to avoid bias in the segregation ratio. Chi-squared analysis was performed includi...

Erythromelalgia is an autosomal dominant disorder characterized by burning pain in response to warm stimuli or moderate exercise. We describe a novel mutation in a family with erythromelalgia in SCN9A, the gene that encodes the Na(v)1.7 sodium channel. Na(v)1.7 produces threshold currents and is selectively expressed within sensory neurons including nociceptors. We demonstrate that this mutatio...

Congenital erythropoietic porphyria (Günther's disease) is a rare disorder of heme biosynthesis inherited in an autosomal recessive fashion. The molecular abnormality responsible for the characteristic defect in uroporphyrinogen III synthase activity was investigated in two patients. For the first patient, complementary DNA was specifically amplified using the polymerase chain reaction and subs...

BACKGROUND Mutations in the X-linked gene encoding dystrophin cause skeletal and cardiac muscle diseases in men. Female "carriers" also can develop overt disease. The purpose of this study was to ascertain the prevalence of cardiac contractile abnormalities in dystrophinopathy carriers. METHODS Twenty-four dystrophinopathy heterozygotes and 24 normal women each underwent standard exercise str...

Inherited bleeding disorders are rare in the general population. Nevertheless, the most common bleeding disorders, haemophilia and von Willebrand disease (VWD), occur in one in 5,000 males and 1% of the general population.1 Since fibrin formation or platelet aggregation in these patients is insufficient, prophylaxis with clotting factor concentrate or desmopressin (DDAVP) prevents severe bleedi...

Congenital hereditary lymphoedema has been reported in man (Milroy, 1892; Esterly, 1965), cattle (Donald, Deas, and Wilson, 1952; Morris, Blood, Sidman, Steel, and Whittem, 1954), and swine (Wiesner, 1960). In each species, oedema of variable degree involves primarily the extremities and may have little effect upon general health. The underlying cause of the oedema is poorly understood. This re...

A 53-yr-old man sequentially developed aplastic anemia from phenytoin and carbamazepine. Both compounds undergo metabolism to potentially toxic arene oxide intermediates. We tested the hypothesis that the patient's adverse reactions were due to a defect in detoxification of such metabolites by challenging his peripheral lymphocytes with drug metabolites generated by a murine hepatic microsomal ...