Pigmentosum retinis and tubulo-interstitial nephronophtisis in Sensenbrenner syndrome: A case report;Retinopathie pigmentaire et nephropathie tubulo-interstitielle lors du syndrome de Sensenbrenner

Journal Francais d'Ophtalmologie

Volumn 23, Issue 2, 2000, Pages 158-160

  Costet, C ^a,d   Betis, F ^a   Berard E ^a   Tsimaratos, M ^b   Sigaudy, S ^b   Antignac, C ^c   Gastaud, P ^a  

^a UNIVERSITY HOSPITAL OF NICE   (France)

^b TIMONE HOSPITAL   (France)

^c HÔPITAL NECKER ENFANTS MALADES   (France)

^d CENTRE HOSPITALIER UNIVERSITAIRE DE NICE   (France)

Author keywords

Cranio ectodermal dysplasia; Nephronophtisis; Pigmentosum retinis; Sensenbrenner Syndrome

Indexed keywords

ARTICLE; CASE REPORT; CHILD; CHRONIC KIDNEY FAILURE; CRANIOFACIAL MALFORMATION; GENE LOCUS; HUMAN; KIDNEY MALFORMATION; KIDNEY TRANSPLANTATION; MULTIPLE MALFORMATION SYNDROME; NEPHRONOPHTHISIS; RETINA DYSTROPHY; RETINITIS PIGMENTOSA; CHROMOSOME ABERRATION; CHROMOSOME DISORDER; CONSANGUINITY; ECTODERMAL DYSPLASIA; FEMALE; GENETICS; INTERSTITIAL NEPHRITIS; KIDNEY; PATHOLOGY; RECESSIVE GENE; SYNDROME;

ABNORMALITIES, MULTIPLE; CHILD; CHROMOSOME ABERRATIONS; CHROMOSOME DISORDERS; CONSANGUINITY; ECTODERMAL DYSPLASIA; FEMALE; GENES, RECESSIVE; HUMANS; KIDNEY; NEPHRITIS, INTERSTITIAL; RETINITIS PIGMENTOSA; SYNDROME;

EID: 0034022657     PISSN: 01815512     EISSN: None     Source Type: Journal    
DOI: None     Document Type: Article

References (11)

1. Sensenbrenner JA, Dorst JP, Owens RP. New syndrome of skeletal, dental and hair abnormalities. In Bergsma D. Ed: Birth Defects: Original Article Series XI. No2, 1975,p.372.
2. Savill GA, Young ID, Cunningham RJ, Ansell ID, Evans JHC. Chronic tubulo-interstitial nephropathy in children with cranioectodermal dysplasia. Pediatr. Nephrol, 1997;11:215-7.
3. Eke T, Woodruff G, Young ID, A new oculorenal syndrome (1993): retinal dystrophy ans tubulointerstitial nephropathy in cranioectodermal dysplasia, Br J Ophtalm, 1996;80:490-1.
4. Genitori L, Lang D, Philip N, Cavalherio S, Lena G, Choux M; Cranioectodermal dysplasia with saggital craniosynostosis (Sensenbrenner's syndrome): case report and review of the literature. Br J Neurosurg, 1992;6:601-6.
5. Tsimaratos M, Berard E, Delarue A, Sigaudy S, Costet C, Antignac C, Gubler MC, Sarles J. Chronic renal failure and cranioectodermal dyplasia: A further step. Am J Med Genet, 1998;26,77(4):337.
6. Antignac C, Arduy CH, Beckmann JS, Benessy F, Gros F, Medhioub M, Kildebrand F, Dufier JL, Kleiknecht C, Broyer M, Weissenbach J, Habib R, Cohen D. A gene for familial juvenile nephronophtisis (recessive medullary cystic disease) maps to chromosome 2 p. Nature Genet, 1993;3:342-5.
7. Hildebrandt F, Singh-Sawhney I, Schneiders B, Centofante L, Omran H, Pohlmann A, Schmaltz C, Wedkind H, Schubotz C, Antignac C, Weber JL, Brandis M, and the members of the APN group. Mapping of a gene for familial juvenile nephronophtisis: confirmation of linkage to chromosome 2 and definition of flanking markers. Am J Hum Genet, 1993;53:1256-61.
8. Lewin LS, Perrin JCS, Ose L, Dorst JP, Miller JD, McKusick VA. A heritable syndrome of cranio-synostosis, short thin hair, dental abnormalities, and short limbs: cranioectodermal dysplasia. J Pediatr, 1977;90:55-61.
9. Land GD, Yound ID. Cranioectodermal dysplasia in sibs. J Med Genet, 1991;28:424.
10. Orssaud C, Kleinknecht C, Habib R, Broyer M. Hérédodégénérescence choriorétinienne et néphromphtise. Place du syndrome de Senior-Loken. Ophtalmologie, 1989;3270-2.
11. Di Rocco M, Picco P, Arslanian A, Restagno G, Perfumo F, Buoncompagni A, Gattorno M, Borrone C. Retinitis pigmentosa, hypopituitafism, nephronophthisis, and mild sketletal syplasia (RHYNS): a new syndrome? Am J Med Genet, 1997 Nov.; 28, 73(1):1-4.