Congenital afibrinogenemia is a very rare inherited coagulation disorder, characterized by virtual absence of plasma fibrinogen (factor I). There are only about 250 cases reported in the world literature 1. We describe a case of congenital afibrinogenemia which presented as an antenatally detected intracranial bleed.

MONILETHRIX, or "beading of the hair" (Fig. 1)* is a rare inherited abnormality in the formation of hair. It was first reported by Smith (1879) and named by' Crocker. The cohdition; is cotnnfonly fa-milial, although isolated non-familial cases have been recorded;-The scalp'hAir is' usually affected, biut many patients showing monilethrix of the pubic and axillary hair and of the eyebrows and ey...

Joubert syndrome (JS) is an autosomal recessive inherited disorder characterized by hypotonia, cerebellar vermis hypoplasia, ocular abnormalities (e.g, pigmentary retinopathy, oculomotor apraxia and nystagmus), renal cysts and hepatic fibrosis. Respiratory abnormalities, as apnea and hyperpnea, may be present, as well as mental retardation. At least seven JS loci have been determined and five g...

INTRODUCTION Gyrate atrophy of the choroid (GA) is a rare, inherited choroidal dystrophy that results in progressive deterioration in peripheral and night vision. This is the first documentation of GA in Singapore. CLINICAL PICTURE This report illustrates 2 cases of a sibling pair from a consanguineous union, presenting with the classical clinical features and biochemical abnormality of this ...

Neuroacanthocytosis denotes a group of uncommon heterogenous neurodegenerative disorders associated with acanthocytosis in the absence of any lipid abnormality. A variety of modes of inheritance have been proposed (X linked and autosomal recessive are clearly described, but a recent report of dominantly inherited chorea acanthocytosis appears to be caused by Huntington’s disease-like type 2 exp...

Neuroacanthocytosis denotes a group of uncommon heterogenous neurodegenerative disorders associated with acanthocytosis in the absence of any lipid abnormality. A variety of modes of inheritance have been proposed (X linked and autosomal recessive are clearly described, but a recent report of dominantly inherited chorea acanthocytosis appears to be caused by Huntington’s disease-like type 2 exp...

A moderately retarded girl had a 47,XX,+der(18),t(9;18)(p24;q21)mat abnormality that was inherited from her mother, who had a 46,XX,t(9;18)(p24;q21) karyotype in most cells, and a minor cell line of 47,XX,+der(18),-t(9;18)(p24;q21). Her dysmorphic features--bilateral epicanthic folds, low-set, abnormal ears, low posterior hairline, clinodactyly of the 5th fingers, and broad great toes--were sim...

Idiopathic haemochromatosis is an inherited defect of iron metabolism characterised by excessive iron absorption and deposition in the tissues leading to damage in the liver and other organs.' The nature of the fundamental metabolic abnormality remains unknown, but the liver and the gut have both been proposed as the principal site of expression of the metabolic defect.' We recently had the opp...