Literature DB >> 10319205

A boy with choanal atresia and cardiac defect: Burn-McKeown syndrome?

H V Toriello1, J V Higgins.   

Abstract

We report on a child we believe may have the same condition described in five children by Burn et al., in 1992 (Clin Dysmorphol 1:137-144). Component manifestations include choanal atresia, cardiac defects, prominent ears, hearing loss, and minor facial anomalies. Our patient also has rather significant short stature, thus adding to the variable phenotype of this condition.

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Mesh:

Year:  1999        PMID: 10319205

Source DB:  PubMed          Journal:  Clin Dysmorphol        ISSN: 0962-8827            Impact factor:   0.816


  3 in total

1.  Compound heterozygosity of low-frequency promoter deletions and rare loss-of-function mutations in TXNL4A causes Burn-McKeown syndrome.

Authors:  Dagmar Wieczorek; William G Newman; Thomas Wieland; Tea Berulava; Maria Kaffe; Daniela Falkenstein; Christian Beetz; Elisabeth Graf; Thomas Schwarzmayr; Sofia Douzgou; Jill Clayton-Smith; Sarah B Daly; Simon G Williams; Sanjeev S Bhaskar; Jill E Urquhart; Beverley Anderson; James O'Sullivan; Odile Boute; Jasmin Gundlach; Johanna Christina Czeschik; Anthonie J van Essen; Filiz Hazan; Sarah Park; Anne Hing; Alma Kuechler; Dietmar R Lohmann; Kerstin U Ludwig; Elisabeth Mangold; Laura Steenpaß; Michael Zeschnigk; Johannes R Lemke; Charles Marques Lourenco; Ute Hehr; Eva-Christina Prott; Melanie Waldenberger; Anne C Böhmer; Bernhard Horsthemke; Raymond T O'Keefe; Thomas Meitinger; John Burn; Hermann-Josef Lüdecke; Tim M Strom
Journal:  Am J Hum Genet       Date:  2014-11-26       Impact factor: 11.025

Review 2.  The Role of the U5 snRNP in Genetic Disorders and Cancer.

Authors:  Katherine A Wood; Megan A Eadsforth; William G Newman; Raymond T O'Keefe
Journal:  Front Genet       Date:  2021-01-28       Impact factor: 4.599

3.  Modelling the developmental spliceosomal craniofacial disorder Burn-McKeown syndrome using induced pluripotent stem cells.

Authors:  Katherine A Wood; Charlie F Rowlands; Huw B Thomas; Steven Woods; Julieta O'Flaherty; Sofia Douzgou; Susan J Kimber; William G Newman; Raymond T O'Keefe
Journal:  PLoS One       Date:  2020-07-31       Impact factor: 3.240

  3 in total

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