Literature DB >> 2555513

Central nervous system malformations in Mohr's syndrome.

W Reardon1, M G Harbord, M A Hall-Craggs, B Kendall, E M Brett, M Baraitser.   

Abstract

A boy with severe developmental delay, bilateral, symmetrical hallucal duplication, and accessory alveolar frenula was found to have radiological evidence of a large arachnoid cyst compressing the cerebellum and brain stem. We review neurological abnormalities in Mohr's syndrome.

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Mesh：

Year:  1989        PMID： 2555513      PMCID： PMC1015722          DOI： 10.1136/jmg.26.10.659

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


  6 in total

1.  Syndrome characterized by lingual malformation, polydactyly, tachypnea, and psychomotor retardation (Mohr syndrome).

Authors:  K H Gustavson; A Kreuger; P O Petersson
Journal:  Clin Genet       Date:  1971       Impact factor: 4.438

2.  Genetic and clinical heterogeneity in the oral-facial-digital syndromes.

Authors:  D L Rimoin; M T Edgerton
Journal:  J Pediatr       Date:  1967-07       Impact factor: 4.406

3.  Familial agenesis of the cerebellar vermis. A syndrome of episodic hyperpnea, abnormal eye movements, ataxia, and retardation.

Authors:  M Joubert; J J Eisenring; J P Robb; F Andermann
Journal:  Neurology       Date:  1969-09       Impact factor: 9.910

4.  Neuropathology of oral-facial-digital syndromes.

Authors:  J Towfighi; C M Berlin; R L Ladda; E E Frauenhoffer; R A Lehman
Journal:  Arch Pathol Lab Med       Date:  1985-07       Impact factor: 5.534

5.  Joubert's syndrome with retinal dysplasia: neonatal tachypnoea as the clue to a genetic brain-eye malformation.

Authors:  M D King; J Dudgeon; J B Stephenson
Journal:  Arch Dis Child       Date:  1984-08       Impact factor: 3.791

Review 6.  The Mohr syndrome: are there two variants?

Authors:  D Haumont; S Pelc
Journal:  Clin Genet       Date:  1983-07       Impact factor: 4.438
  6 in total
  1 in total

1.  Digital and dental malformation and short stature in a patient with neurological problems: a variant of the oculodentodigital dysplasia syndrome or a new syndrome?

Authors:  Marjan Shakiba; Habibe Nezhad Bieglari; Mohammad Reza Alaee
Journal:  Iran J Child Neurol       Date:  2012
  1 in total

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