Congenital Heart Disease

Introduction Cardiac abnormalities in children are predominantly congenital. There are a wide range of diseases that can be classified as congenital heart diseases, some of which are life-threatening, whilst other are so minor they...

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Cystic Fibrosis (CF)

Introduction Cystic fibrosis is the most common life-limiting inherited disease in Caucasians. It is caused by a genetic mutation that alters mucus production, resulting in a more viscous solution. It is autosomal recessive. Life...

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Developmental Dysplasia of the Hip

Introduction Developmental dysplasia of the hip (DDH, formerly known as congenital dislocation of the hip) describes any abnormality found in the neonatal hip joint. The degree of abnormality varies considerably. The problem may arise...

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Duchenne’s Muscular Dystrophy

This is a severe form of muscular dystrophy, and most boys do not survive past adolescence. It is an X-linked recessive condition. Typically affects skeletal muscles initially, but may later go on to affect the...

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Eating Disorders and Weight Loss

Introduction Eating disorders are associated with a high degree of morbidity, and occasionally – mortality.¬†They most commonly present in adolescent females.¬†About 1 in 20 young females who pursue a ‘diet’ to lose weight will...

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Febrile Convulsion

Introduction A seizure is a neurological event where there is a synchronous discharge of many neurons. Each individual has a ‚Äėthreshold‚Äô at which their neurons will begin to do this. It is thought that...

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Fifth Disease

Introudction Fifth Disease –¬†so called as it was the¬†fifth¬†of the six common childhood skin rashes when it was first classified back in the 18th and 19th centuries. Formally known as¬†Erythema Infectiosum¬†and also colloquially called...

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Fragile X Syndrome (Martin-Bell Syndrome)

Introduction So called as there is a ‚Äėfragile site‚Äô¬†on the X chromosome.¬†This is a non-staining, weakened section of the chromosome which is susceptible to breaking. It is an example of a¬†trinucleotide expansion mutation,¬†but is...

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