Microcephaly and congenital nephrotic syndrome owing to diffuse mesangial sclerosis: An autosomal recessive syndrome

Ben Zion Garty, Bella Eisenstein, Judith Sandbank, Sara Kaffe, Ron Dagan, Nathan Gadoth

Research output: Contribution to journalArticlepeer-review

Abstract

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.

Original languageEnglish
Pages (from-to)121-125
Number of pages5
JournalJournal of Medical Genetics
Volume31
Issue number2
DOIs
StatePublished - Feb 1994

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