Literature DB >> 2614800

Porencephalic cyst in pycnodysostosis.

J Figueiredo1, A Reis, R Vaz, M Leáo, C Cruz.   

Abstract

We describe a case of pycnodysostosis with porencephaly and suggest an explanation for the porencephaly by a mechanism of imbalance between brain growth and its vascular supply and a normal but unopposed cerebrospinal fluid pressure.

Entities:  

Mesh：

Year:  1989        PMID： 2614800      PMCID： PMC1015763          DOI： 10.1136/jmg.26.12.782

Source DB:  PubMed          Journal:  J Med Genet        ISSN： 0022-2593            Impact factor:   6.318


  9 in total

1.  Pycnodysostosis. A case report.

Authors:  M M Taylor; T M Moore; J P Harvey
Journal:  J Bone Joint Surg Am       Date:  1978-12       Impact factor: 5.284

2.  THE MALADY OF TOULOUSE-LAUTREC.

Authors:  P MAROTEAUX; M LAMY
Journal:  JAMA       Date:  1965-03-01       Impact factor: 56.272

3.  [Pyknodysostosis].

Authors:  P MAROTEAUX; M LAMY
Journal:  Presse Med       Date:  1962-04-25       Impact factor: 1.228

4.  [2 cases of a condensing osseous disease: pynodysostosis].

Authors:  P MAROTEAUX; M LAMY
Journal:  Arch Fr Pediatr       Date:  1962-02

5.  [A genetic study of pycnodysostosis].

Authors:  L M de Almeida
Journal:  Ann Genet       Date:  1972-06

6.  Pycnodysostosis. Clinical and genetic considerations.

Authors:  H D Sedano; R J Gorlin; V E Anderson
Journal:  Am J Dis Child       Date:  1968-07

7.  Ventral porencephaly: a cerebral defect associated with multiple congenital anomalies.

Authors:  R M Stewart; R S Williams; P Lukl; J Schoenen
Journal:  Acta Neuropathol       Date:  1978-06-30       Impact factor: 17.088

8.  Pycnodysostosis. A clinical, pathological, and ultramicroscopic study of a case.

Authors:  S C Meredith; M A Simon; G S Laros; M A Jackson
Journal:  J Bone Joint Surg Am       Date:  1978-12       Impact factor: 5.284

9.  Familial porencephaly.

Authors:  R A Berg; K A Aleck; A M Kaplan
Journal:  Arch Neurol       Date:  1983-09
  9 in total
  3 in total

1.  Novel mutation and white matter involvement in an Indian child with pycnodysostosis.

Authors:  Ankur Singh; Sergio Cuevas-Covarrubias; Gaurav Pradhan; V K Gautam; Olga Messina-Baas; Luz Maria Gonzalez-Huerta; Manisha Goyal; Seema Kapoor
Journal:  Indian J Pediatr       Date:  2014-10-12       Impact factor: 1.967

2.  Cathepsin K deficiency in mice induces structural and metabolic changes in the central nervous system that are associated with learning and memory deficits.

Authors:  Stephanie Dauth; Ruxandra F Sîrbulescu; Silvia Jordans; Maren Rehders; Linda Avena; Julia Oswald; Alexander Lerchl; Paul Saftig; Klaudia Brix
Journal:  BMC Neurosci       Date:  2011-07-27       Impact factor: 3.288

3.  A patient with pycnodysostosis presenting with seizures and porencephalic cysts.

Authors:  Subhash Kumar
Journal:  J Neurosci Rural Pract       Date:  2014-07
  3 in total

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