title: Familial renal tubular dysgenesis: a disorder not isolated to proximal convoluted tubules.
abstract: The autopsy findings of a newborn with renal tubular dysgenesis, born to first cousins of Moslim Arab descent, are described. Hypocalvaria and hyperflexible joints were noted in addition to the renal lesion. A microdissection study demonstrated marked shortening of all the nephron segments from the glomeruli to the collecting tubules, rather than an isolated abnormality of the proximal convoluted tubules.
authors.affiliation: Department of Pathology, Hadassah Medical Center, Jerusalem, Israel.
authors.forename: I
authors.initials: I
authors.lastname: Ariel
authors.forename: T R
authors.initials: TR
authors.lastname: Wells
authors.forename: B H
authors.initials: BH
authors.lastname: Landing
authors.forename: M
authors.initials: M
authors.lastname: Sagi
authors.forename: B
authors.initials: B
authors.lastname: Bar-Oz
authors.forename: N
authors.initials: N
authors.lastname: Ron
authors.forename: E
authors.initials: E
authors.lastname: Rosenmann
mesh_terms: D003241:Consanguinity; D005260:Female; D006801:Humans; D007231:Infant, Newborn; D007668:Kidney / Q000473:pathology; D007678:Kidney Glomerulus / Q000473:pathology; D007684:Kidney Tubules / Q000002:abnormalities* / Q000473:pathology; D007687:Kidney Tubules, Proximal / Q000002:abnormalities / Q000473:pathology; D008297:Male; D009929:Organ Size; D010375:Pedigree; D012886:Skull / Q000002:abnormalities