Name Eponym Neurofibromatosis von Recklinghausen disease Tuberous sclerosis Boumeville disease Cerebroretinal angiomatosis von Hippel–Lindau disease Encephalotrigeminal angiomatosis Sturge–Weber syndrome Less accepted Ataxia telangiectasia Louis–Bar syndrome Racemose angiomatosis Wyburn–Mason syndrome Bonnet–Dechaume–Blanc…
Fig. 13.1 Sir Archibald Garrod’s one gene-one enzyme hypothesis . A genetic defect leads to an enzyme deficiency which affects a step in the metabolic pathway. This leads to accumulation…
Juvenile rheumatoid arthritis (JRA) Juvenile chronic arthritis (JCA) Minimum duration arthritis ≥6 weeks ≥3 months Subtypes Systemic Systemic Pauciarticular Pauciarticular Polyarticular Polyarticular Juvenile rheumatoid arthritisa Juvenile psoriatic arthritis Juvenile anklyosing…
Type Gene Gene product Prevalence OCA 1 (A and B) TYR Tyrosinase 1/40,000 OCA 2 OCA2 P Protein 1/36,000 (Caucasians) 1/3900–10,000 (Africans) OCA 3 TYRP1 Tyrosinase-related protein I 1/8500 (Africans)…
System Feature Cardiovascular Aortic root dilation Greater propensity to aneurysm rupture Mitral and tricuspid valve prolapse Aortic and pulmonary valve insufficiency Congestive heart failure Dysrhythmia Calcification of mitral annulus Musculoskeletal…
Method OKN VEP Preferential looking (tellar cards) Otago photoscreener Full term newborn 20/400 20/100–20/200 20/200–20/545 – 2–3 months 20/400 20/80 20/285 20/20–20/25 4 months 20/200 20/80 20/167 – 5–6 months 20/100…
Fig. 6.1 Normal Male Karyotype : 46, XY (courtesy of Genomic Pathology Program at Thomas Jefferson University Hospital) Fig. 6.2 FISH panel for chronic lymphocytic leukemia (CLL) : Results from…
Gestational age (weeks) Central comeal thickness (μm) Horizonta corneal diameter (mm) 30–32 Mean 691 8.0 SD 87 0.2 34–35 Mean 648* 8.5* SD 72 0.3 37–38 Mean 605* 8.9* SD…
Fig. 12.1 Purulent conjunctivitis due to gonorrhea infection Diagnosis For ocular disease, culture from conjunctival exudates is the gold standard for diagnosis of gonoccal infections. Colonies grow within 24–48 h of…
Fig. 11.1 Angioid streaks. Note the “star like” hypopigmented areas surrounding the optic nerve, courtesy of Edward Chaum, M.D. Ph.D. The pathogenesis of angioid streaks is poorly understood, especially in…
