Syndrome spotter - David Albert
Syndrome spotter
Syndrome spotter
? Definition ? Resources ? Grouped by aetiology ? Grouped by
? Ear ? Nose ? Throat
Syndrome spotter
? Definition
? "a collection of traits, health problems, and/or birth defects in an individual which usually has a single underlying cause"
? eg gene defect such as Downs ? Syn + Dramien "to run together"
? Sequence Single cause with multiple cascading effects
? Eg Pierre Robin
? Association recognizable pattern without single cause (yet!)
? Eg CHARGE, VATERS
? Resources
Syndrome spotter
? Definition ? Resources
? Smiths - recognisable patterns of human malformation ? London dysmorphology database ? Medline search ? Google search ? ? European Surveillance of Congenital Abnormalities
Grouped by syndrome
? Chromosomal; Downs, Turners, Cri du Chat
? Craniofacial:
Crouzons, Aperts, Pfeifers
? Palatal;
Clefts, Pierre Robin, VCF
? Connective tissue; MPS, EB; OI;
? Branchial arch; Goldenhars
? Obesity;
Beckwith Weiderman, Prader Willi
? Fetal:
Alcohol, warfarin, rubella
? Others
Treacher-collins, CHARGE
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