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Cholestasis facies information


Cholestasis facies
Differential diagnosisAlagille syndrome

Cholestasis facies are a type of facies considered a symptom of Alagille syndrome.[1] However it appears not to be specific but "a general feature of congenital intrahepatic cholestatic liver disease".[2]

  1. ^ Sokol, Ronald J.; Heubi, James E.; Balistreri, William F. (1983). "Intrahepatic 'cholestasis facies': Is it specific for Alagille syndrome?". The Journal of Pediatrics. 103 (2): 205–8. doi:10.1016/S0022-3476(83)80345-X. PMID 6875709.
  2. ^ Kamath, Binita M.; Loomes, Kathleen M.; Oakey, Rebecca J.; Emerick, Karan E.M.; Conversano, Tracy; Spinner, Nancy B.; Piccoli, David A.; Krantz, Ian D. (2002). "Facial features in Alagille syndrome: Specific or cholestasis facies?". American Journal of Medical Genetics. 112 (2): 163–70. doi:10.1002/ajmg.10579. PMID 12244550.

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Cholestasis facies

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Cholestasis facies are a type of facies considered a symptom of Alagille syndrome. However it appears not to be specific but "a general feature of congenital...

Word Count : 120

Cholestasis

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cholestasis, where there is a mechanical blockage in the duct system that can occur from a gallstone or malignancy, and metabolic type of cholestasis...

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Alagille syndrome

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Sokol RJ, Heubi JE, Balistreri WF (August 1983). "Intrahepatic "cholestasis facies": is it specific for Alagille syndrome?". The Journal of Pediatrics...

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List of syndromes

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Arthrogryposis–renal dysfunction–cholestasis syndrome Arts syndrome Ascher's syndrome Asherman's syndrome Asperger syndrome Asymmetric crying facies Ataxia-pancytopenia...

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Fetal alcohol spectrum disorder

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was not published. "She gave a good description in certain cases of the facies" according to her mentor, Paul Lemoine. In 1968, Paul Lemoine of Nantes...

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List of genetic disorders

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hemiplegia of childhood ATP1A3 1:1,000,000 Aortic arch anomaly - peculiar facies - intellectual disability dominant Amish lethal microcephaly SLC25A19 recessive...

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List of OMIM disorder codes

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SLC26A3 Cholestasis, benign recurrent intrahepatic, 2; 605479; ABCB11 Cholestasis, benign recurrent intrahepatic; 243300; ATP8B1 Cholestasis, familial...

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