Phalangeal cone shaped epiphysis of the hands (PhCSEH) and chronic renal disease--the conorenal syndromes.
The phalangeal cone shaped epiphysis of the hands (PhCSEH) observed in the extended Saldino-Mainzer syndrome (SMS), including nephronophthisis, are typed in accordance with standard tables. Of the more than 40 known types, type 28 and/or 28A were found in all eight cases available for analysis, frequently also associated with types 38, 38A, 37 and others. Similar PhCSEH are also observed in asphyxiating thoracic dysplasia (ATD), as well as in some cases of peripheral dysostosis combined with dwarfism. The striking similarity of the PhCSEH formula in our eight cases and of some cases of ATD, all suffering from chronic renal disease, suggests a common pathogenetic pathway of these conditions. The collective name of "conorenal syndromes" is suggested.
D000293:Adolescent; D001848:Bone Diseases, Developmental / Q000175:diagnosis*; D001842:Bone and Bones / Q000000981:diagnostic imaging* / Q000473:pathology; D002648:Child; D003937:Diagnosis, Differential; D004838:Epiphyses / Q000000981:diagnostic imaging; D005260:Female; D006225:Hand / Q000000981:diagnostic imaging*; D006801:Humans; D007674:Kidney Diseases / Q000175:diagnosis*; D008297:Male; D011859:Radiography; D013577:Syndrome