* Syndrome d’Alagille
Suspected on :
- histologic = bile duct paucity (an increased portal tract-to-bile duct ratio)
- 3/5 major clinical features (in addition to bile duct paucity):
  - Cholestasis
  - Cardiac defect (most commonly stenosis of the peripheral pulmonary artery and its branches)
  - Skeletal abnormalities (most commonly butterfly vertebrae identified in AP chest radiographs)
  - Ophthalmologic abnormalities (most commonly posterior embryotoxon
  - Characteristic facial features (most commonly, triangular-shaped face with a broad forehead and a pointed chin, bulbous tip of the nose, deeply set eyes, and hypertelorism; see Figure 1)
Genes = JAG1, NOTCH2
AR

* TRIO
Faux-sens = 2 hotspots
- microcéphalie si dans spectrine
- macrocéphalie si GEFD1