Literature DB >> 671489

Necropsy of original case of Lowry's syndrome.

C L Dolman, V J Wright.   

Abstract

The necropsy findings are reported on one of the original sibs of Lowry's syndrome. The child, who died at 7 years of bronchopneumonia, was severely dwarfed, microcephalic, and microphthalmic. The brain was small and extensively calcified, the cerebellar cortex hypoplastic, and the retinae atrophic. There were multiple skeletal and integumental and minor renal abnormalities. The lymphoid tissue was much reduced, and many arteries and arterioles were thickened and narrowed. This constitutes a unique constellation of lesions.

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Mesh:

Year:  1978        PMID: 671489      PMCID: PMC1013683          DOI: 10.1136/jmg.15.3.227

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


  2 in total

1.  Cataracts, microcephaly, kyphosis, and limited joint movement in two siblings: a new syndrome.

Authors:  R B Lowry; R MacLean; D M McLean; B Tischler
Journal:  J Pediatr       Date:  1971-08       Impact factor: 4.406

2.  The neuropathology of Cockayne's syndrome.

Authors:  J Moossy
Journal:  J Neuropathol Exp Neurol       Date:  1967-10       Impact factor: 3.685

  2 in total
  5 in total

1.  Early onset Cockayne's syndrome: case reports with neuropathological and fibroblast studies.

Authors:  M A Patton; F Giannelli; A J Francis; M Baraitser; B Harding; A J Williams
Journal:  J Med Genet       Date:  1989-03       Impact factor: 6.318

2.  Microcephaly and intracranial calcification in two brothers.

Authors:  M Baraitser; E M Brett; A T Piesowicz
Journal:  J Med Genet       Date:  1983-06       Impact factor: 6.318

3.  Syndromes of microcephaly, microphthalmia, cataracts, and joint contractures.

Authors:  R M Winter; D Donnai; M D Crawfurd
Journal:  J Med Genet       Date:  1981-04       Impact factor: 6.318

Review 4.  Genetics of microphthalmos.

Authors:  M Warburg
Journal:  Int Ophthalmol       Date:  1981-08       Impact factor: 2.031

5.  Cockayne syndrome: magnetic resonance images of the brain in a severe form with early onset.

Authors:  H Nishio; S Kodama; T Matsuo; M Ichihashi; H Ito; Y Fujiwara
Journal:  J Inherit Metab Dis       Date:  1988       Impact factor: 4.982

  5 in total

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