Gene/Protein Disease Symptom Drug Enzyme Compound
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Query: UMLS:C0038379 (strabismus)
 9,317 document(s) hit in 31,850,051 MEDLINE articles (0.00 seconds)

Liver fibrocystic disease (LFCD), characterized by dilatation of the intrahepatic bile ducts and variable degree of fibrosis, can be present alone or as part of many syndromes, such as Bardet-Biedl syndrome (BBS), Meckel syndrome, Jeune asphyxiating thoracic dysplasia, and Fraser-Jequier-Chen syndrome. We report two cases of LFCD and polydactyly with features similar, but not diagnostic of, BBS. Patient 1 was an 18-month-old boy with mental retardation, polydactyly, chronic renal failure, convergent strabismus, and hepatic fibrosis. Patient 2 was a male neonate with LFCD and polydactyly. Their manifestations could not be diagnosed as any of the previous mentioned entities. Difficulties in the early diagnosis of BBS have been previously reported and this could explain the clinical variability and heterogeneity of manifestations at the time of diagnosis. On the other hand, the existence of liver abnormalities in association with BBS has been previously described, but is rare. Our patients' malformations might represent a new entity where autosomal recessive inheritance is probable, but other patterns cannot be ruled out.
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PMID:Liver fibrocystic disease and polydactyly: proposal of a new syndrome. 1134 30

We report the natural history of acquired retinal oxalosis in a child with chronic renal failure. The clinical manifestations were characterized by a transient crystalline retinopathy, but stable, diffuse, flecked retina-like changes and focal hypertropic retinal pigment epithelial lesions. The pathophysiology and previous reports of retinal oxalosis are reviewed.
J Pediatr Ophthalmol Strabismus
PMID:Natural history of acquired retinal oxalosis in a child. 1547 45

A patient with IgA nephropathy developed cotton-wool spots and serous retinal detachments. Fluorescein angiography demonstrated choroidal infarcts in both eyes from hypertensive retinopathy in acute on chronic renal failure. Plasmapheresis and hemodialysis led to visual recovery. Acute ocular hypertensive changes from IgA nephropathy may be reversed by plasmapheresis and hemodialysis.
J Pediatr Ophthalmol Strabismus
PMID:Ocular findings in IgA nephropathy with renal failure and hypertension. 1716 79