Spondyloepiphyseal dysplasia with nephrotic syndrome (schimke immunoosseous dysplasia)

Journal of Pediatric Orthopaedics Part B

Volumn 6, Issue 1, 1997, Pages 7-10

  Rottenberg, G T ^a   Shaw, D G ^a   Hall, C M ^a  

^a GREAT ORMOND STREET HOSPITAL   (United Kingdom)

Author keywords

Cellular immunity; Nephrotic syndrome; Schimke immunoosseous dysplasic; Spondyloepiphyseal dysplasia

Indexed keywords

ARTICLE; BONE AGE; CASE REPORT; CELLULAR IMMUNODEFICIENCY; CHILD; DISEASE ASSOCIATION; FEMALE; GROWTH RETARDATION; HUMAN; HUMAN TISSUE; KIDNEY BIOPSY; LYMPHOCYTOPENIA; NEPHROTIC SYNDROME; PRIORITY JOURNAL; SKELETON RADIOGRAPHY; SPONDYLOEPIPHYSEAL DYSPLASIA;

CHILD, PRESCHOOL; FEMALE; GROWTH DISORDERS; HUMANS; IMMUNITY, CELLULAR; IMMUNOLOGIC DEFICIENCY SYNDROMES; NEPHROTIC SYNDROME; OSTEOCHONDRODYSPLASIAS;

EID: 0030826238     PISSN: 1060152X     EISSN: 14735865     Source Type: Journal    
DOI: 10.1097/01202412-199701000-00002     Document Type: Article

References (15)

1. Ehrich JHH, Offner G, Schirg E, Hoyer PF, Helmchen U, Brodehl J. Association of spondyloepiphyseal dysplasia with nephrotic syndrome. Paediatr Nephrol 1990;4:117-21.
2. Gilchrist DM, Harley FL. Schimke immuno-osseous dysplasia. J Paediatr 1992;120:497.
3. Hashimoto K, Takeuchi A, Ieshima A, Takada M, Kasagi M. Juvenile variant of Schimke immunoosseous dysplasia. Am J Med Genet 1994;49:266-9.
4. Langer LO, Nishino R, Yamaguchi A, et al. Brachymesomelia-renal syndrome. Am J Med Genet 1983;15:57-65.
5. Ludman MD, Cole DEC, Crocker JFS, Cohen MM. Schimke immuno-osseous dysplasia: case report and review. Am J Med Genet 1993;47:793-6.
6. Mainzer F, Saldino RM, Ozonoff MB, Minagi H. Familial nephropathy associated with retinitis pigmentosa, cerebellar ataxia and skeletal abnormalities. Am J Med 1970;49:556-62.
7. Maroteaux P, Humbel R, Strecker, S, Michalski JC, Maude R. Un nouveau type de Sialodose avec atteinte renale. Arch Fr Pediatr 1978;35:819-29.
8. Robins DG, French TA, Chakera TMH. Juvenile nephronoph-thisis associated with skeletal abnormalities and hepatic fibrosis. Arch Dis Child 1976;51:799-801.
9. Santavâ A, Zapletalovâ J, Michâlkovâ K, et al. Spondyloepiphyseal dysplasia with nephrotic syndrome (Schimke immunoosseous dysplasia). Am J Med Genet 1994;49:270-3.
10. Schimke RN, Horton WA, King CR, Martin NL. Chondroitin-6-sulfate mucopolysaccharidosis in conjunction with lymphopenia, defective cellular immunity and the nephrotic syndrome. Birth Defects (Original Article Series) 1974;10:258-66.
11. Shah KJ. Renal lesions in Jeune's syndrome. Br J Radiol 1980;53:432-6.
12. Spranger J, Hinkel GK. Stôss H, Thoenes W, Warowski D, Zepp F. Schimke immuno-osseous dysplasia: a newly recognized multisystem disease. J Paediat 1991;119:64-72.
13. Spranger J, Albert C, Schilling F, Bartocas C, Stôss H. Progressive pseudorheumatoid arthritis of childhood (PPAC). Eur J Paediatr 1983;140:34-40.
14. Stôss H, Pesch HJ, Pontz B, Otten A, Spranger J. Wolcott-Rallison syndrome: diabetes mellitus and spondyloepiphyseal syndrome. Eur J Paediatr 1982;138:120-9.
15. Wynne-Davies R, Hall C. Two clinical variants of spondyloepiphyseal dysplasia congenita. J Bone Joint Surg [Br] 1982;64:435-41.