Literature DB >> 17127790

Twins with senior-Loken syndrome.

S Giridhar1, R Padmaraj, Prabha Senguttuvan.   

Abstract

Senior-Loken syndrome is a rare entity that combines familial juvenile nephronophthisis with retinal dystrophy. The eye disease may be congenital amaurosis of Leber type or pigmentary retinal degeneration and electroretinogram (ERG) helps in the diagnosis of these varieties. The disease progresses inexorably to chronic renal failure. Here is a case of twins with Senior-Loken syndrome emphasizing the importance of ophthalmic examination in children with renal failure, for determining a correct diagnosis.

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Year:  2006        PMID： 17127790     DOI： 10.1007/bf02758316

Source DB:  PubMed          Journal:  Indian J Pediatr        ISSN： 0019-5456            Impact factor:   1.967


  15 in total

1.  Senior-Loken syndrome with unusual manifestations.

Authors:  N P Singh; S Anuradha; S Gupta; S N Rizvi; R Arora
Journal:  J Assoc Physicians India       Date:  1998-08

2.  [Familial, juvenile nephronophthisis (idiopathic parenchymal contracted kidney)].

Authors:  G FANCONI; E HANHART; A von ALBERTINI; E UHLINGER; G DOLIVO; A PRADER
Journal:  Helv Paediatr Acta       Date:  1951-02

3.  Nephrocystin-5, a ciliary IQ domain protein, is mutated in Senior-Loken syndrome and interacts with RPGR and calmodulin.

Authors:  Edgar A Otto; Bart Loeys; Hemant Khanna; Jan Hellemans; Ralf Sudbrak; Shuling Fan; Ulla Muerb; John F O'Toole; Juliana Helou; Massimo Attanasio; Boris Utsch; John A Sayer; Concepcion Lillo; David Jimeno; Paul Coucke; Anne De Paepe; Richard Reinhardt; Sven Klages; Motoyuki Tsuda; Isao Kawakami; Takehiro Kusakabe; Heymut Omran; Anita Imm; Melissa Tippens; Pamela A Raymond; Jo Hill; Phil Beales; Shirley He; Andreas Kispert; Benjamin Margolis; David S Williams; Anand Swaroop; Friedhelm Hildebrandt
Journal:  Nat Genet       Date:  2005-02-20       Impact factor: 38.330

4.  New criteria for improved diagnosis of Bardet-Biedl syndrome: results of a population survey.

Authors:  P L Beales; N Elcioglu; A S Woolf; D Parker; F A Flinter
Journal:  J Med Genet       Date:  1999-06       Impact factor: 6.318

5.  Phalangeal cone shaped epiphysis of the hands (PhCSEH) and chronic renal disease--the conorenal syndromes.

Authors:  A Giedion
Journal:  Pediatr Radiol       Date:  1979-02-26

6.  The nephronophthisis complex. A clinicopathologic study in children.

Authors:  R Waldherr; T Lennert; H P Weber; H J Födisch; K Schärer
Journal:  Virchows Arch A Pathol Anat Histol       Date:  1982

7.  Familial nephropathy associatdd with retinitis pigmentosa, cerebellar ataxia and skeletal abnormalities.

Authors:  F Mainzer; R M Saldino; M B Ozonoff; H Minagi
Journal:  Am J Med       Date:  1970-10       Impact factor: 4.965

8.  Senior-Loken syndrome (nephronophthisis and tapeto-retinal degeneration): a study of 8 cases from 5 families.

Authors:  J P Fillastre; J Guenel; P Riberi; P Marx; J A Whitworth; J M Kunh
Journal:  Clin Nephrol       Date:  1976-01       Impact factor: 0.975

9.  Juvenile nephronophthisis: sonographic appearance in children with severe uremia.

Authors:  L A Garel; R Habib; D Pariente; M Broyer; J Sauvegrain
Journal:  Radiology       Date:  1984-04       Impact factor: 11.105

10.  Ultrasound findings in juvenile nephronophthisis.

Authors:  D L Blowey; U Querfeld; D Geary; B A Warady; U Alon
Journal:  Pediatr Nephrol       Date:  1996-02       Impact factor: 3.714
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  3 in total

1.  Senior- loken syndrome - a ciliopathy.

Authors:  Hemachandar R
Journal:  J Clin Diagn Res       Date:  2014-11-20

2.  Senior Loken Syndrome.

Authors:  Amarpreet Kaur; Shashi Kant Dhir; Geetika Goyal; Naveen Mittal; R K Goyal
Journal:  J Clin Diagn Res       Date:  2016-11-01

3.  Potpourri of retinopathies in rare eye disease - A case series.

Authors:  Neelam Pawar; George J Manayath; Shishir Verghese; Prithvi Chandrakanth; Virna Shah; Ashwini Raut; Swarna Gaikwad; Parth A Patil; Mansha Daswani; R Meenakshi; Kalpana Narendran; Venkatapathy Narendran
Journal:  Indian J Ophthalmol       Date:  2022-07       Impact factor: 2.969
  3 in total

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