Literature DB >> 6620328

Thoracic-pelvic dysostosis: a 'new' autosomal dominant form.

A Bankier, D M Danks.   

Abstract

A form of thoracic and pelvic dysostosis is reported in a mother and her son. The short ribs caused respiratory distress in the baby and raised the possibility of asphyxiating thoracic dystrophy (ATD). The radiological features, however, distinguish this benign condition from ATD and other described skeletal dysplasias.

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Year:  1983        PMID： 6620328      PMCID： PMC1049119          DOI： 10.1136/jmg.20.4.276

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


  19 in total

1.  Difficulties in differentiation between chondroectodermal dysplasia (Ellis--van Creveld syndrome) and asphyxiating thoracic dystrophy.

Authors:  K Kozlowski; C Szmigiel; A Barylak; M Stopyrowa
Journal:  Australas Radiol       Date:  1972-12

2.  Pancreatic exocrine enzyme deficiency associated with asphyxiating thoracic dystrophy.

Authors:  M Karjoo; C E Koop; D Cornfeld; P G Holtzapple
Journal:  Arch Dis Child       Date:  1973-02       Impact factor: 3.791

3.  Isolated thoracic dysostosis.

Authors:  S E Rabushka; L Love; H I Kadison
Journal:  Radiology       Date:  1973-01       Impact factor: 11.105

4.  The thoracic asphyxiant dystrophy and renal disease.

Authors:  R C Herdman; L O Langer
Journal:  Am J Dis Child       Date:  1968-08

5.  Infantile thoracic dystrophy.

Authors:  B J Cremin
Journal:  Br J Radiol       Date:  1970-03       Impact factor: 3.039

6.  Thoracic dystrophy.

Authors:  N D Barnes; D Hull; J S Symons
Journal:  Arch Dis Child       Date:  1969-02       Impact factor: 3.791

7.  Lung structure in thoracic dystrophy.

Authors:  M J Finegold; H Katzew; N B Genieser; M H Becker
Journal:  Am J Dis Child       Date:  1971-08

8.  Dwarfism in the newborn: the nomenclature, radiological features and genetic significance.

Authors:  B J Cremin; P Beighton
Journal:  Br J Radiol       Date:  1974-02       Impact factor: 3.039

9.  Infantile thoracic dystrophy--a variant of Ellis-Van Creveld syndrome.

Authors:  A S Hanissian; W W Riggs; D A Thomas
Journal:  J Pediatr       Date:  1967-12       Impact factor: 4.406

10.  Asphyxiating thoracic dystrophy of the newborn.

Authors:  T Pirnar; E B Neuhauser
Journal:  Am J Roentgenol Radium Ther Nucl Med       Date:  1966-10
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  3 in total

1.  A probably distinct autosomal recessive thoraco-limb dysplasia.

Authors:  H Rivera; J M Perez-Salas; Z Nazara; M L Ramirez
Journal:  J Med Genet       Date:  1988-09       Impact factor: 6.318

2.  A previously undescribed syndrome of thoracic dysplasia and communicating hydrocephalus in two sibs, one diagnosed prenatally by ultrasound.

Authors:  R M Winter; S Campbell; J S Wigglesworth; E J Nevrkla
Journal:  J Med Genet       Date:  1987-04       Impact factor: 6.318

3.  Autosomal dominant thoracolaryngopelvic dysplasia: Barnes syndrome.

Authors:  J Burn; C Hall; D Marsden; D J Matthew
Journal:  J Med Genet       Date:  1986-08       Impact factor: 6.318
  3 in total

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