Literature DB >> 1342861

New dysmorphic syndrome with choanal atresia in siblings.

J Burn1, C McKeown, J Wagget, R Bray, J Goodship.   

Abstract

We report five children from three families who presented with bilateral choanal atresia associated with a spectrum of additional malformations including cardiac defects, deafness, defects of the external ear, eyes and eye lids and a characteristic dysmorphic appearance. The children were of normal intelligence. This syndrome is distinct from CHARGE association.

Entities:  

Mesh：

Year:  1992        PMID： 1342861

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


  5 in total

1.  Harveian Oration 2019: Prediction and prevention in the genomic era.

Authors:  John Burn
Journal:  Clin Med (Lond)       Date:  2020-01       Impact factor: 2.659

2.  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 3.  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

4.  Identification of causative variants in TXNL4A in Burn-McKeown syndrome and isolated choanal atresia.

Authors:  Jacqueline A C Goos; Sigrid M A Swagemakers; Stephen R F Twigg; Marieke F van Dooren; A Jeannette M Hoogeboom; Christian Beetz; Sven Günther; Frank J Magielsen; Charlotte W Ockeloen; Maria A Ramos-Arroyo; Rolph Pfundt; Helger G Yntema; Peter J van der Spek; Philip Stanier; Dagmar Wieczorek; Andrew O M Wilkie; Ans M W van den Ouweland; Irene M J Mathijssen; Jane A Hurst
Journal:  Eur J Hum Genet       Date:  2017-07-26       Impact factor: 4.246

5.  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
  5 in total

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