Literature DB >> 2602025

Acampomelic campomelic dysplasia.

R I Macpherson1, S A Skinner, A E Donnenfeld.   

Abstract

Two newborn infants with respiratory distress showed all the clinical and radiologic stigmata of the campomelic dysplasia except campomelia itself.

Entities:  

Mesh：

Year:  1989        PMID： 2602025     DOI： 10.1007/bf02010643

Source DB:  PubMed          Journal:  Pediatr Radiol        ISSN： 0301-0449


  7 in total

1.  Pelvis-shoulder dysplasia.

Authors:  P S Thomas; M M Reid; A M McCurdy
Journal:  Pediatr Radiol       Date:  1977

2.  The "campomelic" syndrome. Short life-span dwarfism with respiratory distress, hypotonia, peculiar facies, and multiple skeletal and cartilaginous deformities.

Authors:  F A Lee; H Isaacs; J Strauss
Journal:  Am J Dis Child       Date:  1972-10

3.  Sex-reversed XY females with campomelic dysplasia are H-Y negative.

Authors:  F D Bricarelli; M Fraccaro; J Lindsten; U Müller; P Baggio; L D Carbone; A Hjerpe; F Lindgren; A Mayerová; H Ringertz; E M Ritzén; D C Rovetta; C Sicchero; U Wolf
Journal:  Hum Genet       Date:  1981       Impact factor: 4.132

4.  Genetical and clinical aspects of campomelic dysplasia.

Authors:  G Beluffi; M Fraccaro
Journal:  Prog Clin Biol Res       Date:  1982

5.  Campomelic dysplasia. Further elucidation of a distinct entity.

Authors:  B D Hall; J W Spranger
Journal:  Am J Dis Child       Date:  1980-03

6.  Long-limbed campomelic dwarfism. A radiologic and pathologic study.

Authors:  G E Austin; R H Gold; J M Mirra; S Perry; S Moedjono
Journal:  Am J Dis Child       Date:  1980-11

Review 7.  The campomelic syndrome: review, report of 17 cases, and follow-up on the currently 17-year-old boy first reported by Maroteaux et al in 1971.

Authors:  C S Houston; J M Opitz; J W Spranger; R I Macpherson; M H Reed; E F Gilbert; J Herrmann; A Schinzel
Journal:  Am J Med Genet       Date:  1983-05
  7 in total
  4 in total

1.  Evaluation of newborns with skeletal dysplasias.

Authors:  R I Macpherson; G S Pai
Journal:  Indian J Pediatr       Date:  2000-12       Impact factor: 1.967

2.  Translocation breakpoints in three patients with campomelic dysplasia and autosomal sex reversal map more than 130 kb from SOX9.

Authors:  J Wirth; T Wagner; J Meyer; R A Pfeiffer; H U Tietze; W Schempp; G Scherer
Journal:  Hum Genet       Date:  1996-02       Impact factor: 4.132

3.  Acampomelic campomelic dysplasia with de novo 5q;17q reciprocal translocation and severe phenotype.

Authors:  R Savarirayan; A Bankier
Journal:  J Med Genet       Date:  1998-07       Impact factor: 6.318

4.  Spine malformation complex in 3 diverse syndromic entities: Case reports.

Authors:  Ali Al Kaissi; Andreas van Egmond-Fröhlich; Sergey Ryabykh; Polina Ochirov; Vladimir Kenis; Jochen G Hofstaetter; Franz Grill; Rudolf Ganger; Susanne Gerit Kircher
Journal:  Medicine (Baltimore)       Date:  2016-12       Impact factor: 1.889
  4 in total

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