Skip to main content

Table 1 Clinical features of 5p monosomy, 6p trisomy, and Alagille syndrome

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

  1. FGR fetal growth restriction, PDA patent ductus artery, VSD ventricular septal defect, ASD atrial septal defect, PPS peripheral pulmonic stenosis, TOF tetralogy of Fallot, CoA coarctation of the abdominal aorta, ACC agenesis of corpus callosum