Literature DB >> 16607507

Gomez-Lopez-Hernandez syndrome.

William Whetsell1, Gaurav Saigal, Savio Godinho.   

Abstract

We describe a case of Gomez-Lopez-Hernandez syndrome in an 18-month-old boy. Imaging findings included rhombencephalosynapsis with a single dentate nucleus. In addition, MR angiography revealed an azygous anterior cerebral artery. The clinical presentation, MRI findings and pathogenesis are discussed.

Entities:  

Mesh：

Year:  2006        PMID： 16607507     DOI： 10.1007/s00247-006-0150-1

Source DB:  PubMed          Journal:  Pediatr Radiol        ISSN： 0301-0449


  7 in total

Review 1.  Prenatal magnetic resonance imaging in Gomez-Lopez-Hernandez syndrome and review of the literature.

Authors:  Tiong Yang Tan; George McGillivray; Stacy K Goergen; Susan M White
Journal:  Am J Med Genet A       Date:  2005-11-01       Impact factor: 2.802

Review 2.  Cerebello-trigeminal-dermal dysplasia (Gómez-López-Hernández syndrome): description of three new cases and review.

Authors:  M V Muñoz R; A C Santos; C Graziadio; J M Pina-Neto
Journal:  Am J Med Genet       Date:  1997-10-03

3.  Rhombencephalosynapsis with massive hydrocephalus: case report and pathogenetic considerations.

Authors:  Anthony T Yachnis
Journal:  Acta Neuropathol       Date:  2001-11-22       Impact factor: 17.088

4.  Gomez-Lopez-Hernandez syndrome: expansion of the phenotype.

Authors:  D Brocks; M Irons; A Sadeghi-Najad; R McCauley; P Wheeler
Journal:  Am J Med Genet       Date:  2000-10-23

5.  Cerebellotrigeminal and focal dermal dysplasia: a newly recognized neurocutaneous syndrome.

Authors:  M R Gomez
Journal:  Brain Dev       Date:  1979       Impact factor: 1.961

6.  Analysis and classification of cerebellar malformations.

Authors:  Sandeep Patel; A James Barkovich
Journal:  AJNR Am J Neuroradiol       Date:  2002-08       Impact factor: 3.825

7.  Craniosynostosis, ataxia, trigeminal anaesthesia and parietal alopecia with pons-vermis fusion anomaly (atresia of the fourth ventricle). Report of two cases.

Authors:  A López-Hernández
Journal:  Neuropediatrics       Date:  1982-05       Impact factor: 1.947
  7 in total
  3 in total

1.  Gómez-López-Hernández syndrome: reappraisal of the diagnostic criteria.

Authors:  Biayna Sukhudyan; Varsine Jaladyan; Gayane Melikyan; Jan Ulrich Schlump; Eugen Boltshauser; Andrea Poretti
Journal:  Eur J Pediatr       Date:  2010-07-23       Impact factor: 3.183

Review 2.  Early Cerebellar Development in Relation to the Trigeminal System.

Authors:  Maryam Rahimi-Balaei; Hassan Marzban; Richard Hawkes
Journal:  Cerebellum       Date:  2022-03-02       Impact factor: 3.648

3.  Purkinje cell compartmentation in the cerebellum of the lysosomal Acid phosphatase 2 mutant mouse (nax - naked-ataxia mutant mouse).

Authors:  Karen Bailey; Maryam Rahimi Balaei; Ashraf Mannan; Marc R Del Bigio; Hassan Marzban
Journal:  PLoS One       Date:  2014-04-10       Impact factor: 3.240
  3 in total

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