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20 Cards in this Set
- Front
- Back
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Klinefelter's syndrome
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47XXY. Main symptoms are hypogonadism (hormones, rather than genital size) and reduced fertility. More obvious in puberty - boys have wider hips, less facial/body hair, less muscle, gynaecomastia. Height is increased.
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Duchenne muscular dystrophy
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X-linked so effects boys only. Proximal muscle weakness spreading distally. My show hypertrophy of calf muscles (making up for proximal weakness). Diagnosis by raised CK and biopsy. No cure, manage symptoms via steroids. Most wheelchair bound by age 12. Life expectancy is 25.
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Congenital adrenal hyperplasia
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Impaired corticosteroid synthesis in adrenal cortex (90% = 21-hydroxylase). Presents with weight loss, failure to thrive, vomiting, hypotension, hyperpigmentation, and ambiguous genitalia (typically masculinised).
Later, females may have irregular menses, infertility, and male pattern baldness. Short stature, precocious puberty (<8), and PCOS are common. Treat with steroids |
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Coeliac disease
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Commonly presents once children are weaned from milk onto solid foods (around six months). Child may drop down growth percentiles, be anaemia, lethargic/withdrawn, classically with wasted buttocks.
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Kawasaki disease
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A self limiting vasculitis of unknown origin. Fever, polymorphic rash, conjunctivitis, mucosal erythema with strawberry tongue, induration of the hands and feet, and unilateral cervical lymphadenopathy. Coronary aneurysms in 20% untreated children.
Treat with immunoglobulin, aspirin and steroids. |
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Henoch-Schonlein purpura
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Most common vasculitis of childhood. Typically follows URTI. Classic tetrad of rash (usually buttocks and legs), abdo pain, arthralgia/arthritis (non-destructive), and glomerulonephritis. Treat with analgesics and steroids.
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Rheumatic fever
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An autoimmune disease following infection with group A streptococci. Effects joints, brain, skin, and heart (rheumatic heart disease). Treat with analgesia and antibiotics. Symptomatic treatment of heart problems.
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Cystic Fibrosis
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The most common clinical manifestations are pancreatic dysfunction, resulting in calorie malabsorption; and lung disease, resulting from a cycle of mucus retention, infection, and inflammation.
Commonly fail to pass meconium as neonates so require surgery. Respiratory symptoms require symptomatic treatment (physio, antibiotics, bronchodilators, mucolytics) |
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Patau syndrome
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Microcephalic, small eyes
Cleft lip/palate Polydactyly Scalp lesions |
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Edward's syndrome
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Micrognathia
Low-set ears Rocker bottom feet Overlapping of fingers |
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Fragile X
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Learning difficulties
Macrocephaly Long face Large ears Macro-orchidism |
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Noonan syndrome
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Webbed neck
Pectus excavatum Short stature Pulmonary stenosis |
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Pierre-Robin syndrome
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Micrognathia
Posterior displacement of the tongue Cleft palate |
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Prader-Willi syndrome
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Hypotonia
Hypogonadism Obesity |
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William's syndrome
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Short stature
Learning difficulties Friendly, extrovert personality Transient neonatal hypercalcaemia Supravalvular aortic stenosis |
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Loss of paternal chromosome 15
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Prader-Willi syndrome
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X-linked inheritance
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Duchenne MD, Fragile X
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Monosomy inheritance
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Turner's
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Microdeletion inheritance (check with FISH)
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DiGeorge's, William's
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Trisomy
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Down's (21), Patau (13), Edward's (18)
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