From: Alagille-like syndrome with surprising karyotype: a case report
 | Current case | 5p monosomy [1] | 6p trisomy [3] | Alagille syndrome [4] |
---|---|---|---|---|
Hepatic disorders | Cholestatic liver (hypoplasia of the interlobular bile ducts, changes similar to giant cell tumor of hepatocytes and anomaly of blood vessels) | Unknown | Unknown | Cholestatic liver (paucity of interlobular bile duct, change similar to giant cell tumor of hepatocytes, anomaly of blood vessel) |
Dysmorphic | Hawk/nosed, micrognathia, interocular dissociation, corneas with severe edema | Microretrognathia, epicanthal folds, broad nasal bridge, round face, interocular dissociation | Facial asymmetry, craniosynostosis, low/set ears, short nose, prominent nasal bridge, thin lips, small mouth, blepharophimosis, microphthalmia, and so on. | Prominent forehead, deep-set eyes with hypertelorism, pointed chin, saddle or straight nose, eye anomalies (posterior embryotoxon) |
Development (physical and mental) | FGR, growth retardation | Mental retardation | FGR, growth retardation, mental retardation | FGR, failure to thrive |
Congenital heart disease | PDA | VSD, PDA, ASD | PDA, ASD, VSD, PPS | PPS, TOF, CoA |
Others | Cat-like cry | Cat-like cry, ACC, renal abnormalities | CAKUT, Blain malformation, seizures | Spine anomalies (butterfly vertebrae), renal abnormalities |