Literature DB >> 2456854

Medulloblastoma in association with the Coffin-Siris syndrome.

L Rogers1, J Pattisapu, R R Smith, P Parker.   

Abstract

An 8-year old patient with Coffin-Siris syndrome is presented, who was found to have a medulloblastoma during the evaluation of apnea and ventilator dependency. Although several cases of Dandy Walker cysts and one case of brain-stem heterotopia have been described in this rare syndrome, this is the first report of medulloblastoma in a patient with Coffin-Siris syndrome. Possible pathogenetic mechanisms are briefly discussed.

Entities:  

Mesh：

Year:  1988        PMID： 2456854     DOI： 10.1007/BF00274083

Source DB:  PubMed          Journal:  Childs Nerv Syst        ISSN： 0256-7040            Impact factor:   1.475


  15 in total

1.  The Coffin-Siris syndrome.

Authors:  A Schinzel
Journal:  Acta Paediatr Scand       Date:  1979-05

2.  The syndrome of Coffin, Siris and Wegienka: report of a case.

Authors:  P E Sylvester; A T Rundle; B W Richards
Journal:  J Ment Defic Res       Date:  1976-03

3.  The Dandy-Walker and Arnold-Chiari malformations. Clinical, developmental, and teratological considerations.

Authors:  E Gardner; R O'Rahilly; D Prolo
Journal:  Arch Neurol       Date:  1975-06

4.  The Dandy-Walker syndrome. A clinicopathological study based on 28 cases.

Authors:  M N Hart; N Malamud; W G Ellis
Journal:  Neurology       Date:  1972-08       Impact factor: 9.910

5.  Coffin-Siris syndrome. Two new cases.

Authors:  W H Weiswasser; B D Hall; G W Delavan; D W Smith
Journal:  Am J Dis Child       Date:  1973-06

6.  Mental retardation with absent fifth fingernail and terminal phalanx.

Authors:  G S Coffin; E Siris
Journal:  Am J Dis Child       Date:  1970-05

7.  Heterotopias of the inferior olive. Relation to Dandy-Walker malformation and correlation with experimental data.

Authors:  J Hanaway; M G Netsky
Journal:  J Neuropathol Exp Neurol       Date:  1971-07       Impact factor: 3.685

8.  [The Coffin-Siris syndrome. Case report].

Authors:  M L Giovannucci Uzielli; S Seminara; P A Nicòtina; I Consumi; C La Cauza
Journal:  Minerva Pediatr       Date:  1980-02-28       Impact factor: 1.312

9.  Coffin-Siris syndrome. Neuropathologic findings.

Authors:  W A DeBassio; T L Kemper; J E Knoefel
Journal:  Arch Neurol       Date:  1985-04

Review 10.  The Coffin-Siris syndrome. A report of four cases and review of the literature.

Authors:  J Lucaya; J A Garcia-Conesa; J M Bosch-Banyeras; G Pons-Peradejordi
Journal:  Pediatr Radiol       Date:  1981
View more
  4 in total

1.  The Coffin-Siris syndrome: a proposed diagnostic approach and assessment of 15 overlapping cases.

Authors:  Samantha A Schrier; Joann N Bodurtha; Barbara Burton; Albert E Chudley; Mary Anne D Chiong; Maria Gabriella D'avanzo; Sally Ann Lynch; Antonio Musio; Dmitriy M Nyazov; Pedro A Sanchez-Lara; Stavit A Shalev; Matthew A Deardorff
Journal:  Am J Med Genet A       Date:  2012-06-18       Impact factor: 2.802

2.  Norcantharidin impairs medulloblastoma growth by inhibition of Wnt/β-catenin signaling.

Authors:  Flora Cimmino; Maria Nunzia Scoppettuolo; Marianeve Carotenuto; Pasqualino De Antonellis; Valeria Di Dato; Gennaro De Vita; Massimo Zollo
Journal:  J Neurooncol       Date:  2011-07-07       Impact factor: 4.130

3.  Medulloblastoma in association with the Coffin-Siris syndrome.

Authors:  L Rogers; J Pattisapu; R R Smith; P Parker
Journal:  Childs Nerv Syst       Date:  1988-02       Impact factor: 1.475

4.  Current recommendations for clinical surveillance and genetic testing in rhabdoid tumor predisposition: a report from the SIOPE Host Genome Working Group.

Authors:  M C Frühwald; K Nemes; H Boztug; M C A Cornips; D G Evans; R Farah; S Glentis; M Jorgensen; K Katsibardi; S Hirsch; K Jahnukainen; I Kventsel; K Kerl; C P Kratz; K W Pajtler; U Kordes; V Ridola; E Stutz; F Bourdeaut
Journal:  Fam Cancer       Date:  2021-02-03       Impact factor: 2.375
  4 in total

北京卡尤迪生物科技股份有限公司 © 2022-2023.