Literature DB >> 11261917

Anaesthesia in a child with autosomal recessive omodysplasia.

B J Di Luca1, A Mitchell.   

Abstract

A child with a recently described form of dwarfism, autosomal recessive omodysplasia, presented for general anaesthesia for dental conservation. Despite the patient's dysmorphic features and craniofacial and mandibular deformities, no significant anaesthetic problems were encountered. Anaesthetic implications of the condition are reviewed.

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Year:  2001        PMID： 11261917     DOI： 10.1177/0310057X0102900115

Source DB:  PubMed          Journal:  Anaesth Intensive Care        ISSN： 0310-057X            Impact factor:   1.669


  2 in total

1.  Mutations in the heparan-sulfate proteoglycan glypican 6 (GPC6) impair endochondral ossification and cause recessive omodysplasia.

Authors:  Ana Belinda Campos-Xavier; Danielle Martinet; John Bateman; Dan Belluoccio; Lynn Rowley; Tiong Yang Tan; Alica Baxová; Karl-Henrik Gustavson; Zvi U Borochowitz; A Micheil Innes; Sheila Unger; Jacques S Beckmann; Lauréane Mittaz; Diana Ballhausen; Andrea Superti-Furga; Ravi Savarirayan; Luisa Bonafé
Journal:  Am J Hum Genet       Date:  2009-05-28       Impact factor: 11.025

2.  Novel Clinical and Radiological Findings in a Family with Autosomal Recessive Omodysplasia.

Authors:  Allan Bayat; Morton Dunø; Maria Kirchhoff; Finn S Jørgensen; Gen Nishimura; Hanne B Hove
Journal:  Mol Syndromol       Date:  2020-03-07
  2 in total

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