Literature DB >> 6875715

Multiple ankyloses, facial anomalies, and pulmonary hypoplasia associated with severe antenatal spinal muscular atrophy.

P Moerman, J P Fryns, P Goddeeris, J M Lauweryns.   

Abstract

Two unrelated patients with multiple ankyloses, pulmonary hypoplasia, and characteristic facies syndrome had definite evidence of severe spinal muscular atrophy of prenatal onset. In addition, there were specific changes in the adrenal cortex.

Entities:  

Mesh：

Year:  1983        PMID： 6875715     DOI： 10.1016/s0022-3476(83)80352-7

Source DB:  PubMed          Journal:  J Pediatr        ISSN： 0022-3476            Impact factor:   4.406


  5 in total

1.  Primary (isolated) bilateral pulmonary hypoplasia: a comparative study of radiologic findings and autopsy results.

Authors:  R Langer; H J Kaufmann
Journal:  Pediatr Radiol       Date:  1986

2.  Pathologic features in two siblings with the Pena-Shokeir I syndrome.

Authors:  M Bisceglia; L Zelante; C Bosman; R Cera; B Dallapiccola
Journal:  Eur J Pediatr       Date:  1987-05       Impact factor: 3.183

3.  Lethal congenital contracture syndrome: further delineation and genetic aspects.

Authors:  K Vuopala; R Herva
Journal:  J Med Genet       Date:  1994-07       Impact factor: 6.318

4.  Olivo-ponto-cerebellar atrophy with muscular atrophy, joint contractures and pulmonary hypoplasia of prenatal onset.

Authors:  P Moerman; P G Barth
Journal:  Virchows Arch A Pathol Anat Histopathol       Date:  1987

5.  Congenital muscular dystrophy associated with lethal arthrogryposis multiplex congenita.

Authors:  P Moerman; J P Fryns; H Van Dijck; J M Lauweryns
Journal:  Virchows Arch A Pathol Anat Histopathol       Date:  1985
  5 in total

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