OBJECTIVE To investigate the prevalence of currently recognised inherited prothrombotic states in a population of children with arterial stroke. METHODS Children with arterial stroke presenting to a tertiary level paediatric neurology centre between 1990 and 1996 were investigated for inherited prothrombotic states. RESULTS Sixty seven children with arterial stroke were investigated. Abnorm...

Aims: To describe the clinical features and genetic findings in two families presenting with microcoria inherited as an autosomal dominant trait. Methods: Both affected and unaffected members of two families displaying familial microcoria were examined. Flash photography or infrared pupillography were used to assess pupils, and a full ophthalmic examination including visual acuity and field tes...

This is described as autosomal recessive inherited syndrome. Primary (genetic) defects in the structure and function of sensory and motile cilia result in multiple ciliopathies. A reduction in the number of arms which propel mucus (dynein arms) is a common abnormality but many other structural defects of the cilia have been found. Patients with normal cilia morphology but abnormal mucus propuls...

Dyskeratosis congenita (DKC) is a rare inherited disease that is characterized by abnormal skin pigmentation, nail dystrophy and mucosal leukoplakia. DKC is caused by an abnormality in a component of the telomerase and shelterin complexes. TINF2 encodes a protein in the shelterin complex and TERC encodes a component of the telomerase complex. Mutations of both genes have been associated with DK...

Familial hyperlipidemia (FH) is an inherited metabolic disorder caused by low-density lipoprotein (LDL) receptor abnormality. The delayed clearance of serum LDL results in severe hypercholesterolemia, which leads to the accumulation of LDL-derived cholesterol in skin, tendons, and arterial walls.In homozygous form of the disease, severely atheromatous involvement of the aorta extending to the c...

This is described as autosomal recessive inherited syndrome. Primary (genetic) defects in the structure and function of sensory and motile cilia result in multiple ciliopathies. A reduction in the number of arms which propel mucus (dynein arms) is a common abnormality but many other structural defects of the cilia have been found. Patients with normal cilia morphology but abnormal mucus propuls...

This is described as autosomal recessive inherited syndrome. Primary (genetic) defects in the structure and function of sensory and motile cilia result in multiple ciliopathies. A reduction in the number of arms which propel mucus (dynein arms) is a common abnormality but many other structural defects of the cilia have been found. Patients with normal cilia morphology but abnormal mucus propuls...

This is described as autosomal recessive inherited syndrome. Primary (genetic) defects in the structure and function of sensory and motile cilia result in multiple ciliopathies. A reduction in the number of arms which propel mucus (dynein arms) is a common abnormality but many other structural defects of the cilia have been found. Patients with normal cilia morphology but abnormal mucus propuls...

A family exhibiting a leukocytic arylsulfatase A deficiency, probably inherited in an autosomal recessive manner, differed from patients with typical metachromatic leukodystrophy in that sulfatiduria was absent and there was readily detectable cerebroside sulfatase activity. To our knowledge, this family was unique in that there were no known members with metachromatic leukodystrophy and the on...

Thrombophilia can thus be defined as: an inherited or acquired abnormality of haemostasis predisposing to thrombosis, predominantly on the venous side. Although thrombophilia is usually reserved for the hereditary types of hypercoagulability, the antiphospholipid syndrome is generally included under this term and can cause either venous or arterial thrombosis. (Refer to Table 3 for recommendati...