Allagile syndrome physical examination: Difference between revisions

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====Head, Eyes, Ears, Nose, Throat====
*A broad, prominent forehead, deep-set eyes, and a small pointed chin may be present. The sensitivity of facies identification to diagnose Alagille syndrome was 76%, the specificity 82%, the positive predictive value 81%, and the negative predictive value 77%.      These results suggest that the facies seen in Alagille syndrome is specific to this condition and its recognition is a valuable tool in diagnosis <ref name="pmid12244550">{{cite journal|author=Kamath BM, Loomes KM, Oakey RJ, Emerick KE, Conversano T, Spinner NB et al.| title=Facial features in Alagille syndrome: specific or cholestasis facies? | journal=Am J Med Genet | year= 2002 | volume= 112 | issue= 2 |pages= 163-70 | pmid=12244550 | doi=10.1002/ajmg.10579 | pmc= | url= }} </ref>.
*[[Scleral icterus]]


====Skin====
*[[Jaundice]]
*[[Xanthomas]]
====Extremities====
Supernumerary digital flexion creases have been identified in one third of patients. Other digital abnormalities  include short distal phalanges and fifth finger clinodactyly. Normally, supernumerary digital creases have been reported in less than 1% of the general population.
====References====
{{reflist|2}}

Latest revision as of 16:24, 23 September 2011