Abstract
This paper reports an isolated case of the exceedingly rare cutaneo-skeletal condition craniomandibular dermatodysostosis, in which focal glomerular sclerosis and end-stage renal failure developed and renal transplantation was required.
This is a preview of subscription content, log in via an institution to check access.
References
Danks DM, Mayne V, Norman H, Wettenhall B, Hall RK (1974) Craniomandibular dermatodysostosis. Birth Defects 10: 99–105
Cavallazi C, Cremoncuri R, Quadri A (1960) Su di un caso di disostosi cleiodocranica. Riv Clin Pediatr 65: 312–326
Young LW, Radebaugh JF, Rubin P, Sensenbrenner JA, Fiorelli G (1971) A new syndrome manifested by mandibular hypoplasia, acro-osteolysis, stiff joints and cutaneous atrophy (mandibulo acral dysplasia) in two unrelated boys. Birth Defects 7: 291–297
Cohen LK, Thurnson TF, Salvaggio J (1973) Werner syndrome. Cutis 12: 76
Levi L, Bellani G, Vergani G, D'Alonzo R (1990) L'acrogenia di Gottron. Ital J Dermatol 3: 645
Tenconi R, Miotti F, Audino G, Ferro R, Clementi M (1986) Another Italian family with mandibulo acral dysplasia: why does it seem more frequent in Italy? Am J Med Genet 24: 357–364
Eisenberg KS, Potter DE, Burill EG Jr (1972) Osteo-onychodystrophy with nephropathy and renal osteodystrophy. A case report. J Bone Joint Surg [Am] 54A: 1301
Hoyer JR, Michael AF, Vernier RL (1972) Renal disease in nail patella syndrome. Clinical and morphologic studies. Kidney Int 2: 23
Torg JS, Steel HH (1968) Essential osteolysis with nephropathy. A review of the literature and case report of an unusual syndrome. J Bone Joint Surg [Am] 50A: 1629
Schimke RN, Horton WA, King CR, Martin NL (1973) Chondroitin-6-sulfate mucopolysaccharidosis in conjunction with lymphopenia, defective cellular immunity and the nephrotic syndrome. Birth Defects 10: 258–266
Opitz JM, Lowry RB, Holmes TM, Morgan K (1985) Hutterite cerebro-osteo-nephrodysplasia. Am J Med Genet 22: 521–529
Ehrich JHH, Offner G, Schirg E, Hoyer PF, Helmchen U, Brodehl J (1990) Association of spondylo-epiphyseal dysplasia with nephrotic syndrome. Pediatr Nephrol 4: 117–121
Author information
Authors and Affiliations
Rights and permissions
About this article
Cite this article
Pedagogos, E., Flanagan, G., Francis, D.M.A. et al. A case of craniomandibular dermatodysostosis associated with focal glomerulosclerosis. Pediatr Nephrol 9, 354–356 (1995). https://doi.org/10.1007/BF02254211
Received:
Accepted:
Issue Date:
DOI: https://doi.org/10.1007/BF02254211