Alagille syndrome physical examination
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Editor-In-Chief: C. Michael Gibson, M.S., M.D. [1]
Overview
During physical examination a clinician may observe distinct physical features involving the head, nose, eyes, ears, throat. Other presentations may include skin conditions like jaundice and deformities of the digits. Congenital heart defect, mostly pulmonary stenosis, typical facial features, skeletal features and posterior embryotoxon in the eye are commonly found. Renal and central nervous system abnormalities may occur.
Physical Examination
During physical examination a patient may present with the following.
Skin
HEENT
- 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
- an eye examination to check for posterior embryotoxon
Heart
- A cardiology examination to check for heart problems
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
- ↑ 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.