Abstract
The phalangeal cone shaped epiphysis of the hands (PhCSEH1) 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.
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Abbreviations
- AS:
-
Aortic stenosis
- ATD:
-
Asphyxiating thoracic dysplasia
- CSE:
-
Coneshaped epiphysis
- EvCS:
-
Ellis-van Creveld syndrome
- NPS:
-
Nephronophthisis
- PD:
-
Peripheral dysostosis
- PhCSEH:
-
Phalangeal cone shaped epiphysis of the hand
- SMS:
-
Saldino-Mainzer syndrome
Literature
Beals, R. K.: Personal Communication 1977
Bellini, F., Bardare, M.: Su un caso di disostosi periferica. Minerva Pediatr.18, 106 (1966)
Chakera, T. M. H.: Peripheral dysotosis associated with juvenile nephronophthisis. Br. J. Radiol.48, 765 (1975)
Diekmann, L., Louis, C., Schulte-Kemna, E.: Familiäre Nephropathie mit Retinitis pigmentosa. Helv. Paediatr. Acta32, 375 (1977)
Fredensborg, N.: The Spherical Index. A measure of the rondness of the femoral head. Acta Radiol. [Diagn.] (Stockh.)18, 685 (1977)
Giedion, A.: Zapfenepiphysen — Naturgeschichte und diagnostische Bedeutung einer Störung des enchondralen Wachstums. Ergeb. Med. Strahlenforsch.1, 59–124 (1968)
Giedion, A.: Acrodysplasias — cone-shaped epiphyses, peripheral dysostosis, Thiemann's disease and acrodysostosis. Prog. Pediatr. Radiol.4, 325 (1973)
Giedion, A.: Acrodysplasias. Peripheral dysostosis, acrodysostosis and Thiemann's disease. Clin. Orthop.114, 107 (1976)
Gruskin, A. B., Baluarte, H. J., Cote, M. L., Elfenbein, I. B.: The renal disease of thoracic asphyxiant dystrophy. Birth Defects10, 44 (1974)
Jéquier, S.: Personal Communication 1977
Kaufmann, H. J., Steinmann, A., Rösli, A. U.: Ghost cone shaped epiphyses in a new type of peripheral acromelic metaphyseal chondrodysplasia. Ann. Radiol. (Paris)21, 105 (1978)
Kleinknecht, C., Broyer, M., Habib, R.: Néphronophtise juvénile. Rev. Pediatr.13, 441 (1977)
Langer, L. O.: Thoracic-pelvic phalangeal dystrophy of the newborn, infantile thoracic dystrophy. Radiology91, 447 (1968)
Mainzer, F., Saldino, R. M., Ozonoff, M. B., Minagi, H.: Familial nephropathy associated with retinitis pigmentosa, cerebellar ataxia and skeletal abnormalities. Am. J. Med.49, 556 (1970)
Oberklaid, F., Danks, D. M., Mayne, V., Campbell, P.: Asphyxiating thoracic dysplasia: clinical, radiological and pathological information on 10 patients. Arch. Dis. Child.52, 758 (1977)
Peña, J.: Disostosis metafisaria. Una revisión. Con aportación de una observación familiar. Una forma nueva de la enfermedad? Radiologia (Madrid)47, 3 (1965)
Poznanski, A. K.: The hand in radiologic diagnosis. Philadelphia: W. B. Saunders 1974
Popović-Rolović, M., Čalić-Perišić, G., Bunjevački, G., Negovanović, D.: Juvenile nephronophthisis associated with retinal pigmentary dystrophy, cerebellar ataxia, and skeletal abnormalities. Arch. Dis. Child.51, 801 (1976)
Rawson, S. P.: Personal Communication 1965
Rawson, P.: Personal Communication 1969
Rawson, P.: Personal Communication 1975
Robins, D. G., French, T. A., Chakera, T. M. H.: Juvenile-ne phronophthisis associated with skeletal abnormalities and hepatic fibrosis. Arch. Dis. Child.51, 799 (1976)
Saldino, R. M., Mainzer, F.: Cone-shaped epiphyses (CSE) in siblings with hereditary renal disease and retinitis pigmentosa. Radiology98, 39 (1971)
Senior, B.: Familial renal-retinal dystrophy: Am. J. Dis. Child.125, 442 (1973)
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Giedion, A. Phalangeal cone shaped epiphysis of the hands (PhCSEH) and chronic renal disease - The conorenal syndromes. Pediatr Radiol 8, 32–38 (1979). https://doi.org/10.1007/BF00973675
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DOI: https://doi.org/10.1007/BF00973675