Literature DB >> 3746836

Autosomal dominant thoracolaryngopelvic dysplasia: Barnes syndrome.

J Burn, C Hall, D Marsden, D J Matthew.   

Abstract

We review a family in which a mother and two of her three children suffered a distinct syndrome of thoracic dystrophy with small chest volume, laryngeal stenosis, normal stature with variable asymmetry, asthenic build, and a small pelvis. In addition to the different inheritance pattern, this syndrome is distinguished from the better known Jeune syndrome by the differing thoracic and pelvic configuration.

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Mesh:

Year:  1986        PMID: 3746836      PMCID: PMC1049703          DOI: 10.1136/jmg.23.4.345

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


  3 in total

1.  [Asphyxiating thoracic dystrophy with familial characteristics].

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

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

Authors:  A Bankier; D M Danks
Journal:  J Med Genet       Date:  1983-08       Impact factor: 6.318

3.  Chest reconstruction in thoracic dystrophy.

Authors:  N D Barnes; D Hull; A D Milner; D J Waterston
Journal:  Arch Dis Child       Date:  1971-12       Impact factor: 3.791

  3 in total
  4 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.  Antenatal Diagnosis of Jeune Syndrome (Asphyxiating Thoracic Dysplasia) with Micromelia and Facial Dysmorphism on Second-Trimester Ultrasound.

Authors:  Kewal A Mistry; Pokhraj P Suthar; Siddharth R Bhesania; Ankitkumar Patel
Journal:  Pol J Radiol       Date:  2015-06-07

3.  Skeletal Dysplasias That Cause Thoracic Insufficiency in Neonates: Illustrative Case Reports.

Authors:  Mehmet Sah İpek; Cihan Akgul Ozmen
Journal:  Medicine (Baltimore)       Date:  2016-04       Impact factor: 1.889

4.  Cilia-mediated Hedgehog signaling controls form and function in the mammalian larynx.

Authors:  Jacqueline M Tabler; Maggie M Rigney; Gordon J Berman; Swetha Gopalakrishnan; Eglantine Heude; Hadeel Adel Al-Lami; Basil Z Yannakoudakis; Rebecca D Fitch; Christopher Carter; Steven Vokes; Karen J Liu; Shahragim Tajbakhsh; Se Roian Egnor; John B Wallingford
Journal:  Elife       Date:  2017-02-13       Impact factor: 8.140

  4 in total

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