Novel variant syndrome associated with congenital hepatic fibrosis

Table 1 Comparison of our cases with other related syndromes

	Joubert syndrome	Bardet-Biedl syndrome	COACH syndrome	Arima syndrome	Meckel syndrome	Our cases
Cerebellar vermis hypoplasia	+1		+1	+1
Ataxia	+1		+1
Abnormal breathing pattern	+1
Abnormal eye movements	+1
Hypotonia	+1
Retinitis pigmentosa	+3	+1				+
Polydactyly		+1	+3		+1
Truncal obesity		+1				+
Mental retardation		+1				+
Psychomotor retardation				+1
Hypogonadism/genital abnormalities		+1
Renal abnormalities		+1		+1	+1
Speech disorder/delay		+2
Strabismus/cataract/astigmatism		+2
Brachydactyly/syndactyly		+2
Mild hypertonia		+2
Dental abnormalities		+2
High-arched palate		+2				+
Cardiovascular abnormalities		+2	+3
Encephalocele					+1
Diabetes mellitus		+2
Oligophrenia			+1
Ocular coloboma			+1
Nystagmus	+3			+1		+
Hepatic fibrosis	+3	+3	+1	+1	+3	+
Advanced myopia						+

¹One of the primary features of this syndrome;

²One of the secondary features of this syndrome;

³Not a constant feature but has been reported in the literature.