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medicine curiosity
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Atualizado 24 out 2017
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Created by
Moises Littig
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Sd Joubert (French neurologist - Marie Joubert)
Dç Menkes - Menkes et al at Columbia University
Kearns-Sayre syndrome
Leigh syndrome - subacute necrotising encephalomyelopathy - mitocondrial disorder
Dandy-Walker malformation
Rhombencephalosynapsis
Lhermitte-Duclos disease - dysplastic cerebellar gangliocytoma
Cowden syndrome - multiple hamartoma syndrome
Meckel-Gruber syndrome
Fryns syndrome
Coffin-Siris syndrome
Coffin-Lowry syndrome
PHACE syndrome - cutaneous haemangioma–vascular complex + eye
Wyburn-Mason/Bonnet-Dechaume-Blanc syndrome craniofacial arteriovenous metameric syndrome (CAMS)
Aicardi syndrome
Apert syndrome - acrocephalosyndactyly I
Zellweger syndrome - cerebrohepatorenal syndrome
Posterior reversible encephalopathy syndrome
Wolman disease
Fabry disease
Hurler syndrome - mucopolysaccharidosis (MPS type I).
Krabbe disease globoid cell leukodystrophy
Morquio syndrome mucopolysaccharidosis (MPS), type IV
Gaucher disease
Niemann-Pick disease
Tay sachs disease
Crouzon syndrome
Carpenter syndrome acrocephalopolysyndactyly type II ACPS
Noack syndrome
Sakati-Nyhan syndrome acrocephalosyndactly type III
Klippel-Feil syndrome
Wildervanck syndrome cervico-ocular-acoustic dysplasia
Hydrolethalus syndrome
Smith-Lemli-Opitz syndrome 7-dehydrocholesterol reductase deficiency
Hirschsprung disease
Waardenburg syndrome
Bardet-Biedl syndrome
Pallister-Hall syndrome
Aarskog-Scott syndrome facio-digito-genital
Wernicke-Korsakoff syndrome
Amyotrophic lateral sclerosis Lou Gehrig disease or Charcot disease
esresioneuroblastoma
Dorello canal
Gradenigo syndrome
Gardner and Richards
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