Three other siblings probably had small a ventricular septal defect and another one probably had mild pulmonary valve stenosis. [ncbi.nlm.nih.gov]

RESULTS: Sixteen patients had morphologic abnormalities in the liver, 15 had splenomegaly (three underwent splenectomy for portal hypertension), and 14 had varices or spontaneous splenorenal shunts. [ncbi.nlm.nih.gov]

Joubert syndrome is an autosomal recessive inherited condition characterized by agenesis or hypoplasia of the cerebellar vermis, retinal dystrophy, chorioretinal colobomata, oculomotor abnormalities, episodic hyperpnea, ataxia, and mental retardation. [ncbi.nlm.nih.gov]

Hepatomegaly was present in all patients and splenomegaly in all but one. Liver function and renal function tests were normal in all children, except for a raised serum alkaline phosphatase in six. [ncbi.nlm.nih.gov]

The patients showed early hepatosplenomegaly, portal hypertension, and no apparent kidney involvement. Clinical and laboratory findings were similar in both patients. [ncbi.nlm.nih.gov]

Ophthalmological assessment demonstrated visual impairment with mild exotropia, nystagmus, and oculomotor apraxia. Neurological examination showed moderate mental retardation and cerebellar ataxia. [ncbi.nlm.nih.gov]

On examination, her upper primarily canines were loose, she had severe periodontitis, eruption of permanent teeth, diffuse eritematous and hyperkeratotic palms and soles that suggested the syndrome. [ncbi.nlm.nih.gov]

There was no history of abdominal pain or any skin bleeds and any hyperpigmentations. On tracing the pedigree, no other family member was known to be affected. She had no family history of renal cystic disease. [omicsonline.org]

A majority of individuals have significant learning difficulties but only a minority have severe impairment on IQ testing. [ncbi.nlm.nih.gov]

Note: Nephrocalcinosis is different from nephrolithiasis (renal stones), in which calcification is within the lumen of the collecting system or ureter. [ncbi.nlm.nih.gov]