| Microcephaly and congenital nephrotic syndrome owing to diffuse mesangial sclerosis: an autosomal recessive syndrome. | |
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MedLine Citation:
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PMID: 8182716 Owner: NLM Status: MEDLINE |
Abstract/OtherAbstract:
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Three sibs born to consanguineous parents had congenital nephrotic syndrome, microcephaly, and psychomotor retardation. Pathology of the kidneys showed diffuse mesangial sclerosis with deposits of IgG and C3 in the mesangium and glomerular basement membranes. All three children died before the age of 3 years. Of 19 published cases of children with the association of congenital nephrotic syndrome and microcephaly, only four had histological evidence of diffuse mesangial sclerosis, and two of their sibs probably had the same disease. The association of nephrotic syndrome owing to congenital diffuse mesangial sclerosis, microcephaly, and mental retardation appears to be a distinct syndrome with an autosomal recessive mode of inheritance. |
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Authors:
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B Z Garty; B Eisenstein; J Sandbank; S Kaffe; R Dagan; N Gadoth |
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Publication Detail:
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Type: Case Reports; Journal Article |
Journal Detail:
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Title: Journal of medical genetics Volume: 31 ISSN: 0022-2593 ISO Abbreviation: J. Med. Genet. Publication Date: 1994 Feb |
Date Detail:
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Created Date: 1994-06-16 Completed Date: 1994-06-16 Revised Date: 2009-11-18 |
Medline Journal Info:
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Nlm Unique ID: 2985087R Medline TA: J Med Genet Country: ENGLAND |
Other Details:
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Languages: eng Pagination: 121-5 Citation Subset: IM |
Affiliation:
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Department of Paediatrics, Beilinson Medical Centre, Petah Tiqva, Israel. |
Export Citation:
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| MeSH Terms | |
Descriptor/Qualifier:
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Abnormalities, Multiple
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genetics* Cerebellum / pathology Consanguinity Female Genes, Recessive / genetics Glomerular Mesangium / pathology* Growth Disorders / genetics Head / abnormalities Humans Infant Male Mental Retardation / genetics Microcephaly / genetics* Muscle Hypertonia / genetics Nephrotic Syndrome / congenital, genetics* Nuclear Family Pedigree Sclerosis / genetics Syndrome |
| Comments/Corrections | |
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