Allagile syndrome physical examination
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 [1].
- Scleral icterus
Skin
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.
- ↑ Kamath BM, Loomes KM, Oakey RJ, Emerick KE, Conversano T, Spinner NB; et al. (2002). "Facial features in Alagille syndrome: specific or cholestasis facies?". Am J Med Genet. 112 (2): 163–70. doi:10.1002/ajmg.10579. PMID 12244550.