Literature DB >> 14564154

Two brothers with Burn-McKeown syndrome.

Dagmar Wieczorek1, Ozge Altug Teber, Dietmar Lohmann, Gabriele Gillessen-Kaesbach.   

Abstract

We report on two brothers with normal intelligence, bilateral choanal atresia, and a characteristic pattern of facial dysmorphic features consisting of hypertelorism, lower lid coloboma, narrow palpebral fissures, prominent nasal bridge, small mouth with thin lips, and protruding ears. These features show striking similarity to patients with Burn-McKeown syndrome [Burn et al., 1992 Clin. Dysmorphol 1: 137-144] and confirm the existence of this rare condition. These brothers show some additional features that were not previously reported in patients with this syndrome including median cleft palate with oronasal fistula, preauricular tag, hypomimic face, and hypoplastic unilateral kidney, thus indicating that the clinical spectrum of this entity is broader.

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Year:  2003        PMID: 14564154     DOI: 10.1097/01.mcd.0000072163.33788.c4

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


  4 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.  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

4.  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

  4 in total

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