Literature DB >> 931421

Asphyxiating thoracic dysplasia. Clinical, radiological, and pathological information on 10 patients.

F Oberklaid, D M Danks, V Mayne, P Campbell.   

Abstract

Review of 10 cases of asphyxiating thoracic dysplasia has shown a wide range of clinical effects and some variability in the radiographic features. Respiratory difficulty was severe in 7 babies and lethal in 6 of these. The seventh child is remarkable for his normal stature and excellent health at 15 years of age. 3 babies had no respiratory difficulty but 2 of them subsequently died of renal failure; one remains alive at 3 years. Microscopical abnormalities in the liver and kidneys were very frequent and appeared to increase progressively with age.

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Year:  1977        PMID： 931421      PMCID： PMC1544803          DOI： 10.1136/adc.52.10.758

Source DB:  PubMed          Journal:  Arch Dis Child        ISSN： 0003-9888            Impact factor:   3.791


  9 in total

1.  Peripheral dysostosis associated with juvenile nephronophthisis.

Authors:  T M Chakera
Journal:  Br J Radiol       Date:  1975-09       Impact factor: 3.039

2.  [Asphyxiating thoracic dystrophy with familial characteristics].

Authors:  M JEUNE; C BERAUD; R CARRON
Journal:  Arch Fr Pediatr       Date:  1955

3.  Juvenile nephronophthisis associated with retinal pigmentary dystrophy, cerebellar ataxia, and skeletal abnormalities.

Authors:  M Popović-Rolović; N Calić-Perisíc; G Bunjevacki; D Negovanović
Journal:  Arch Dis Child       Date:  1976-10       Impact factor: 3.791

4.  Juvenile nephronophthisis associated with skeletal abnormalities and hepatic fibrosis.

Authors:  D G Robins; T A French; T M Chakera
Journal:  Arch Dis Child       Date:  1976-10       Impact factor: 3.791

5.  A renal lesion in asphyxiating thoracic dysplasia.

Authors:  P J Edelson; T J Spackman; R E Belliveau; M J Mahoney
Journal:  Birth Defects Orig Artic Ser       Date:  1974

6.  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

7.  The thoracic asphyxiant dystrophy and renal disease.

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

8.  [International nomenclature of constitutional diseases of bones].

Authors: 
Journal:  Ann Radiol (Paris)       Date:  1970

9.  Familial nephropathy associatdd with retinitis pigmentosa, cerebellar ataxia and skeletal abnormalities.

Authors:  F Mainzer; R M Saldino; M B Ozonoff; H Minagi
Journal:  Am J Med       Date:  1970-10       Impact factor: 4.965
  9 in total
  32 in total

1.  Fusionless procedures for the management of early-onset spine deformities in 2011: what do we know?

Authors:  Behrooz A Akbarnia; Robert M Campbell; Alain Dimeglio; Jack M Flynn; Gregory J Redding; Paul D Sponseller; Michael G Vitale; Muharrem Yazici
Journal:  J Child Orthop       Date:  2011-04-27       Impact factor: 1.548

2.  The intraflagellar transport protein IFT80 is required for cilia formation and osteogenesis.

Authors:  Shuying Yang; Changdong Wang
Journal:  Bone       Date:  2012-07-04       Impact factor: 4.398

3.  Co-occurrence of Joubert syndrome and Jeune asphyxiating thoracic dystrophy.

Authors:  A M Lehman; P Eydoux; D Doherty; I A Glass; D Chitayat; B Y H Chung; S Langlois; S L Yong; R B Lowry; F Hildebrandt; P Trnka
Journal:  Am J Med Genet A       Date:  2010-06       Impact factor: 2.802

Review 4.  Imaging of congenital chest wall deformities.

Authors:  Sze M Mak; Basrull N Bhaludin; Sahar Naaseri; Francesco Di Chiara; Simon Jordan; Simon Padley
Journal:  Br J Radiol       Date:  2016-02-26       Impact factor: 3.039

5.  The intraflagellar transport protein ift80 is essential for photoreceptor survival in a zebrafish model of jeune asphyxiating thoracic dystrophy.

Authors:  Leah M Hudak; Shannon Lunt; Chi-Hsuan Chang; Ethan Winkler; Halley Flammer; Michael Lindsey; Brian D Perkins
Journal:  Invest Ophthalmol Vis Sci       Date:  2010-03-05       Impact factor: 4.799

6.  ASPHYXIATING THORACIC DYSTROPHY.

Authors:  Vipan Chandar; A K Arora; H S Nagi
Journal:  Med J Armed Forces India       Date:  2017-06-26

7.  Combined NGS approaches identify mutations in the intraflagellar transport gene IFT140 in skeletal ciliopathies with early progressive kidney Disease.

Authors:  Miriam Schmidts; Valeska Frank; Tobias Eisenberger; Saeed Al Turki; Albane A Bizet; Dinu Antony; Suzanne Rix; Christian Decker; Nadine Bachmann; Martin Bald; Tobias Vinke; Burkhard Toenshoff; Natalia Di Donato; Theresa Neuhann; Jane L Hartley; Eamonn R Maher; Radovan Bogdanović; Amira Peco-Antić; Christoph Mache; Matthew E Hurles; Ivana Joksić; Marija Guć-Šćekić; Jelena Dobricic; Mirjana Brankovic-Magic; Hanno J Bolz; Gregory J Pazour; Philip L Beales; Peter J Scambler; Sophie Saunier; Hannah M Mitchison; Carsten Bergmann
Journal:  Hum Mutat       Date:  2013-05       Impact factor: 4.878

8.  The wide spectrum of the asphyxiating thoracic dysplasia.

Authors:  H Cortina; J Beltran; R Olague; L Ceres; A Alonso; A Lanuza
Journal:  Pediatr Radiol       Date:  1979-04-19

9.  Familial juvenile nephronophthisis, Jeune's syndrome, and associated disorders.

Authors:  M D Donaldson; A A Warner; R S Trompeter; G B Haycock; C Chantler
Journal:  Arch Dis Child       Date:  1985-05       Impact factor: 3.791

10.  Jeune syndrome: description of 13 cases and a proposal for follow-up protocol.

Authors:  J de Vries; J L Yntema; C E van Die; N Crama; E A M Cornelissen; B C J Hamel
Journal:  Eur J Pediatr       Date:  2009-05-10       Impact factor: 3.183
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